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187 Cards in this Set
- Front
- Back
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CPT I Deficiency
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"Primarily affects liver (specific isoform)
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CPT II Def
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"Reduced fatty acid oxidation in skeletal and cardiac muscle
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Translocase Def
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"
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Primary Carnitine Def
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"Defective carnitine transport (OCN-2 gene) into muscle, kidney & heart tissues from plasma:- Compromise acyl-oxidations in affected tissues, noticeable in heart.
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Secondary Carnitine Def
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"Defects in β-oxidation pathway leads to accumulation of acyl-carnitines which are excreted by the kidneys, depleting carnitine pool.
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Reyes Syndrome
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"Rare disease affecting children < 4years-old. Carnitine is adequate.
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MCAD
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"It reduces energy production from β-oxidation and Most affected individuals present with fasting hypoglycaemia in infancy /childhood…. particularly during illness when child eats little.
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Jamaican Vomiting Sickness
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"* Unripe akee fruit contains a rare amino acid (hypoglycin).
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Refsum's Disease
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"Accumulation of phytanic acid in the plasma, blood cells and tissues
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Zellweger's Syndrome
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"Abnormalities of
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Type I Diabetes
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Type I : hyperglycaemia results from inadequate supply of insulinType I diabetes gluconeogenesis predominates consuming large amounts of oxaloacetateCells are metabolically starved of glucose!!!!!!Lipolysis results in excessive amounts of acetyl-CoA production.
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Avidin
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" a tetrameric protein found in egg white (approximately 1.8mg per egg).
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EFA Deficiency
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"Rare phenomenon in adults more likely in children
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Smith-Lemli-Optiz syndrome (SLOS)
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"7-Dehydrocholesterol-7-reductase deficiency
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Cholestatic diseaseie
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biliary obstruction of either the small bile ducts or the larger extrabiliary ducts. Diagnosis is by CT scanning or ultra-sound radiography.
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Jaundice
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Patient has yellow pigmentation of the sclera of the eye. This clinical observation is caused by hyperbilirubinaemia.
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Cholethiasis( gall bladder)
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Cholesterol is solubilised in micelles that contain PLs and bile.When liver secretes bile with a cholesterol:PL ratio greater than 1:1excess cholesterol tends to crystalize.
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FamilialLPLase deficiency (type 1)
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decrease in Lplase, Apo CII def, increase in serum TAG
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Familial hypercholesterolaemia(type 2)
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decrease in LDL receptors, increase in serum cholestrol
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Familial hypertriglycidemia (type 4)
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overproduction of VLDL associated with alcohol, diabetes and obesity , increase in serum TAG
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Hypolipidemia
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"•Rare, often genetic
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Type III Hyperlipidemia
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" ApoE abnormalities which interferes with hepatic chylomicron and VLDL remnant removal.
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Tangier Disease
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"•Rare autosomal disorder;mutation in an ABC1 transporter gene.
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Fish Eye Disease- Partial LCAT Deficiency
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"FED: defect in LCAT (threonine is substituted for an isoleucine residue) toward HDL cholesterol (VLDL and LDL activity is normal).
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Primary Biliary Cirrhosis
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"Hypercholesterolaemia occurs in this type of liver disease.
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Zellweger‟s Syndrome
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Characterisedby elevated levels of plasma VLCFAsAbnormalities of peroxisomalproteins (peroxins) producingmalfunctionalperoxisomes….failure to oxidiseVLCFAs
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Thiamine Def.
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"α-Ketoglutarate dehydrogenase complex (TCA cycle) & PDH complex
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Wernicke Korsoakoff Syndrome
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" thiamine def. affecting CNSAcute stage patient presents with:-
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Prion Diseases
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"Neurodegenerative disorders that affect animals and humans.
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Mad Cow Disease, Bovine Spongioform Encephalopathy
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"Probably triggered by feeding contaminated sheep offal to cattle.
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Vit B 12 Def
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"Lack of intrinsic factor preventsvitamin B12absorption.Chronic alcoholics poor diet & pathological alterations to GI tract. •Neurological dysfunction is associated with hypomethylation in the CNS.
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5. Multiple Sclerosis
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"Varies from mild to severe (fatal). CNS tries to repair damage to myelin sheath
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7. Adrenoleukodystrophy
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"aka (X-linked Schilder‟s disease)
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11. Alzheimers
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"•Brain ….tangles & plaques
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13. Creutzfeldt jakob
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Cerebral cortex with spongiform vacuolar degeneneration (hallmark).Vacuolation accompanied by neuronal loss
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Wilsons Disease
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"copper accumulates in tissues particulary in liver, brain, eye and kidneys, causes Kayser Fleischer Rings •Low concentration of ceruloplasminand copper.
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Phospholipase A 2 (snake venom)
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hemolysis
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Hemochormatosis
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"Progressive haemosiderosisleading to organ damage, particularly liver and muscle tissue (saturation of iron-binding protein).
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Hypoalbuminemia
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"Decreased synthesis....protein energy malnutrition (PEM) & chronic liver disease
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Alpha anitrypsin def
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"Substitution of lysine for glutamate at residue 53 slows its secretion from hepatocytes.
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17 alpha hydroxylase def
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"Sex hormone & cortisol deficiency
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Cushing Sydrome
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"hyperglycaemia premature ischaemic heart disease hypersecretion of cortisol
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Addison;s Disease
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"Autoimmuneadrenal destruction resulting in hypoadrenalism first described in 1855.
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Chronic adrenal failure
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"Weight loss leading to anorexia
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Acute Adrenal Failure
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presents with hypovolaemic shock and severe hypoglycaemia which if uncorrected would be fatal.
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CAH (Adrenogenital syndrome)
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"ACTH still stimulates CYPIIA, with the result that there is an increase of the flux of pregnenolone into androgen synthesis, a condition known as adrenogenital syndrome.
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11 B hydroxylase def
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"Decrease in cortisol, aldosterone & corticosterone production.
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21 non classical OHD
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"Milder variant presenting in childhood with virilisation & precocious puberty.
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Classical 21-OHD
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"Androgen production is increased producing ambiguous genitalia in newborn female.
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Acute liver disease
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"Rapid appearance of severe complications (massive liver necrosis).
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Chronic liver disease
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"Progressive destruction of liver tissue that leads top fibrosis & cirrhosis.
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Newborn Jaundice
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"Transient jaundice may occur in neonates (premature babies) because the enzymes involved in bilirubinmetabolism may not be
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Gilbert's Syndrome
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5 – 8% population, mild unconjugated hyper bilirubaemia. Modest impairment of UDP – glucuronyl transferase activity.
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Criggler Najjer Syndrome
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UDP – glucuronyl transferase deficiency. Presents at birth and is fatal.
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Dubin Johnson Rotors Syndrome
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Very rare. Impaired biliary secretion of conjugated bilirubin resulting in mild conjugated hyperbilirubinaemia.
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Hepatic Encelapathy
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"Complication of both acute & chronic conditions
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Liver Cancer
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"•Common site of secondary metastases from primary cancers in other parts of the body.
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Hemochormatosis
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"is an excessive absorption of iron in small intestines leading to iron overload.
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Hypoprotenemia
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"Liver dysfunction compromises hepatic protein synthesis eg albumin.
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Cholestatic Liver Disease
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"•Bile cannot flow from the liver into the duodenum.
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Chronic Hepatitis
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hepatitis B and C infections as well as alcohol and drug abuse, along with autoimmune diseases
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Acute Hepatic Failure
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"Hepatic failure is a term use to describe the liver’s inability to function properly and is potentially fatal.
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2. Congenital Generalized Lipodystrophy (CGL)
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"Rare autosommal disorder
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Cystinuria
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"•Tubular reabsorption of cystine is decreased (along with dibasic aa lysine, ornithine, arginine) due to an inherited deficiency of the cystine transporter
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Hartnup's Disease
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"•Inherited defect in the transport of the neutral amino acids like tryptophan
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3. Phenylketonuria
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"•Relatively common, autosomal recessivedisorder Phenylalane Hydroxylase Def ; CNS symptoms: child has a delayed development and a low IQ(if not treated immediately). Seizuresmay occur if blood [phe] is higher than the recommended level (normal range)
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4. Alkaptonuria
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"Relatively benign inborn error of phenylalanine-tyrosine catabolism confirmed by increased urinary excretion of homogentisic acid (HGA). def. of homogenisitc acid oxidase
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5. Tyrosinosis
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"Inborn error of phenylalanine-tyrosine catabolism
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6. Maple Syrup Urine Disease
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"Relatively rare inborn error of metabolism Neurological signsdevelop rapidly (e.g. alternating muscular hypotonia and hypertonia, seizures, encephalopathy).
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7. Methylmalonic Aciduria
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"can lead to elevated levels of methylmalonic acid in blood In some children, there is improvement with vitamin B12(cobalamin) supplementation
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8. Homocystinuria
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"•Is a group of disorders in which there is a defect in the metabolism of homocysteine (a product of methioninemetabolism) •Homocysteinebinds to connective tissue and disrupts its structure
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Maternal PKU Syndrome
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Females with PKU have to maintain phelevels during pregnancy. If phelevels are not maintained during pregnancy this may result in microcephaly, mental retardationand congenital heart defects in the foetus.
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PKU Type II and III
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"Deficiency of dihydrobiopterinreductaseordihydrobiopterinsynthesis leading to a lack of the essential coenzyme tetrahydrobiopterin, def of Dihydrobiopterin reductase
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Hyperammonia
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"Ammonia intoxication includes tremors, slurring of speech, somnolence, vomiting, cerebral oedema, and blurring vision.
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11. Hyperammonemia I
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12. Hyperammonia II
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"
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13. Citrunellimia
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"Argininosuccinate synthetase deficiency
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15. Argininosuccinic aciduria
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"ASL deficiency
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14. Arginemia
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"
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16. OTC Deficiency
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" the most common genetic defect of the urea cycle. It is X-linked, but also shows symptoms in female carriers. high blood glutamine
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20. Pheochromocytoma
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"High urinary VMA and catecholamines
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Carncinoid Syndrom
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"Excess serotonin synthesis and secretion occurs in carcinoidtumoursof cells in the small intestine •Tumour of serotonin producing cells in GIT (APUD cells)
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Acquired Hyperammonia
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"Liver disease due to
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Tetra Hydrobiopeterin def.
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"Deficiency of dihydrobiopterin synthase/ dihydrobiopterin reductase result in hyperphenylalaninaemia & decreased synthesis of neurotransmitters (catecholamines, serotonin). Results in delayed mental development and seizures
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Albinism
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"Is a group of disorders in which there is partial or complete deficiency of melanin in the skin, hair and eyes
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Parkinson’s disease
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"•Neurodegenerative disorder Symptoms are improved by administration of L-DOPA (L-Dopa is converted to Dopamine in the brain)
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Lesch Nyann's Syndrome
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"Highly aggressive, def of HGPRT
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Severe Combined Immunodeficiency Disorder
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"Build-up of toxic adenosine
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Gout
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"Poor solubility (crystalisation in soft tissues)
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Secondary Gout
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"G6Pase deficiency (stimulate PPP to synthesise R5P)
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Primary Gout
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"increased synthesis (HGPRT deficiency), hyperuricemia
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Orotic Aciduria
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"Build-up of orotate, excreted as orotic acid (ammonia normal)
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Vit A Def
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"Night Blindness
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Vit B 3(Niacin) Def
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"l Pellagra- rough skin
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Vit B6 Def
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"PLP Deficiency-
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Vit C Def
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"Scurvy - bleeding gums,
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1. Rickets
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in children, frontal bossing, pigeon chest deformity, deminieralization of bone, bow leg deformity, overgrowht of costochondral junction- rachistic rosary
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2. Osteomalacia
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in adults, weakening of bones causes fractures
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3. Scurvy
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" bleeding gums,
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6. Menke’s syndrome
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X linked disease resuling in a dect in copper mobilisation from the intestine causing copper deficiency
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7. Vitamin D deficiency
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"Rickets - children.
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8. Vitamin E Deficiency
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"l Hemolytic Anemia
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9. Vitamin K deficiency
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"Hemorrhagic Disease of
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11. Thiamine deficiency (vit B1 def)
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"l BeriBeri- Polished rice
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12. Beri Beri
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polyneuropathy - disruption of motor, seondary, paralysis dry beri beri, cardiovascular symptoms and cardiac failure- wet ber beri
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13. Wernicke-Korsakoff syndrome
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chronic alcholism, opthalmoplegia, confusion, disorinetation, confabulation, nystagamus ( to and fro movement of eye balls) ataxia
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14. Vit B2(riboflavin) def
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"Chilosis - pallor, cracks,
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Hemoragic Disease of the newborn
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" bleeding of
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16. Vit B12 deficiency
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" Pernicious Anemiamacrocytes
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17. Folic Acid def
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"Megaloblastic Anemiamacrocytes
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18. Copper Deficiency
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"General- Microcytic anemia, degredation of Vascular Tissue,
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19. Wilson’s Disease
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"Defect in Cu Metabolism = Cu in liver, brain,
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Xerophtalmia
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dryness of conjunctiva and cornea, bitots spots, keratomalacia- corneal erosion
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Hypervitaminosis A
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raised intercranial pressure
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Fluoride Def
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"Dental Caries (deficiency)
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Selenium Def
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"l Thyroid deficiency
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Zinc Def
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"l Stunted growth, poor repair, alopecia, loss of taste and smell
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20. Iron Deficiency
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"General- Fe-deficient anemia, fatigue, pallor, weakness, pica
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21. Hereditary Hemochromatosis
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"One the most common disorders
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Anorexia nervosa
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"Low energy intake over extended period of time •GIT: poor motility, bloating, constipation, anatomical damage to lining due to vomiting.
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Bulimia Nervosa
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"Binge eating (2000kcal)
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Malabsorption syndrome
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"Chronic GI tract infections, coeliac disease & lactose intolerance reduce nutrient absorption.
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Cachexia
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"Affects patients with chronic diseases eg. AIDS & cancer.
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PEM
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"Main feature is weight loss
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Kwashiorkar
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"Lack of protein, but energy is usually adequateDecreased albumin synthesis leading to oedema (deceptively fat, distended abdomen).Serum proteins are very low, causing oedematous appearance.(Failure to maintain of blood osmotic pressure) •Adequate dietary calories.
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Marasmus
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"Lack of protein and energy Ratio of non-essential amino acids to essential amino acids in blood is high (reflects proteolysis).
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Primary Obesity
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caloric imbalance
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Secondary Obesity
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associated with a medical disorder eg. hypothyroidism, leptin deficiency….. very rare!!
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Dyslipidemia
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"Obese individuals may have LDL particles which are unusually enriched with TAG with lesser amounts of cholesteryl esters as a result of CETP activity.
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Metabolic Syndrome
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"•Cardiovascular disease (CVD) is a major contributor to morbidity & mortality worldwide. Increased circulation of NEFAs & increased insulin resistance.
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Diabetes mellitus
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(hyperglycaemia, polyglucosuria, polyphagia & polydipsia……known as the classical triad) differs from diabetes insipidus (polydipsia and polyuria).
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Diabetes insipidus
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caused by a failure of antidiuretic hormone (ADH) to regulate water reabsorption in the DCT.
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Glucosuria
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occurs when venous blood glucose exceeds renal threshold, ie. exceeds the reabsorptive capacity of the tubule.
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diabetes mellitus type 1
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"insulin dependent, Juvenile-onset diabetes Patients usually present after short duration of illness (1 to 4 weeks). It is caused by an autoimmune attack on the β-cells of the islets of Langerhans.
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Hyperosmolar non-ketotic coma (HONK)
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"HONK is a medical emergency.
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diabetes mellitus type 2
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"Late-onset diabetes If the patient fails to maintain a strict dietary regime, the hyperglycaemic state will gradually worsen. Type II diabetes
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Gestational Diabetes mellitus
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"Some women during last trimester of pregnancy develop impaired glucose tolerance.
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Hypoinsulinemia
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"Adipose LPL activity is suppressed in the absence of insulin, leading to hypertriglyceridaemia.
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Addison's Disease
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"Autoimmuneadrenal destruction resulting in hypoadrenalism.
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Fibrosarcoma
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releases an insulin-like protein that causes hypoglycaemia.
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Factious Hypoglycemia
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"•Accidental / intentional use of hypoglycaemic agents (sulphonylureas / insulin injections).
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Insulinoma
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"Mostly benign solitary lesions.
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Whipple's Triad
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"1.Adrenergic / neuroglycopenicsymptoms
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Hypoglycemic Encephelopathy
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"Brain cells (plasma glucose 2.5mmol/L) endeavour to use glutamate (a neurotransmitter) and TCA intermediates for energy.
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Carnitine Deficiency
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"normally presents during infancy and can be life threatening if untreated.
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MCAD
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"Reduced energy production from β-oxidation that causes severe hypoglycaemia (insufficient ATP is being produced to maintain gluconeogenesis).
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Torcetrapib
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CETP Inh
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Nonsteroidal anti-inflammatory drugs (NSAIDs)
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Inhibits COXs
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(celecoxib) celbrex
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"COX II Inh pain releaver
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Ziluton
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LOX inh, inhibits LOX-5 reducing the formation of LTB4 and CysLT (LTC4, LTD4 <E4). Restricted in states
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8. Aspirin
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inhibits COX-1 & COX-2 activity via acetylation (covalently) of Ser530*
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Paracetemol
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"A generic painkiller.
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Aflatoxin B1
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"Aflatoxins are a generic group of toxins produced by Aspergillus flavus. Aflatoxin B1is a potent carcinogen but only following its activation by CYP3A4 and CYP1A2, producing a 2,3-epoxide that forms adducts with guanine nucleotides.
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Δ1-tetrahydrocannabinol (THC)
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"Can cross membranes easily and their elimination from the body is difficult
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benzypyrene
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innocuous, but the epoxide reacts with DNA bases producing point mutatations, one of the dangers of smoking
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carbamazepine
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(anti-eleptic) are metabolized by CYP3A4 and actually induces the CYP3A4 gene, hence speeding up its own catabolism.
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Statins
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are metabolised by CY3A4, but grapefruit juice is a known inhibitor of this particular cytochrome monooxygenase.
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erythromyocin and chloramphenicol
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inhibit CYP 450 activity
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Phenylbutyrate
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"
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Diptheria Toxin
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"acute infectious disease affecting the upper respiratory tract & occasionally the skin, caused by the action of diphtheria toxin produced by toxigenic ; The toxin is produced by a lysogenic bacteriophage that infects the bacterium.
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Cycloheximide
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Similar mechanism to chloramphenicol but inhibits 60S subunit in eukaryotes (not clinically useful)
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Streptomyocin
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"Binds to the 30S subunit,
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Erythromyocin
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"Binds irreversibly to the 50S ribosome
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Tetracyclines
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"Interact with 30S and 40S small ribosomal subunits blocking access & therefore binding of the aminoacyl-tRNA to the A site.
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Puromycin
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"Once incorporated into the growingpeptide chainCauses premature chain termination & elongation; An analogue of aminoacyl-tRNA.
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Chloramphenicol
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"Binds to the 50S ribosomes & inhibits peptidyl transferase activity.
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Lovastatin
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blocks HMG-CoA reductase and prevents synthesis of cholesterol*
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Statins
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HMG-CoA reductase is the key-limiting step in cholesterol biosynthesis*Lovastatin (mevinolin) blocks HMG-CoA reductase and prevents synthesis of cholesterol*Acts as a competitive inhibitor.
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Valoproic Acid
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"When GABA levels are low, there is increased excitatory activity in neurons that may lead to epileptic episodes.
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sulphonulureas
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"stimulate insulin production & increase tissue sensitivity in the long-term. that they bind to a sulphonylurea receptor which in turn closes a membrane K+ATP channel.
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Biguanide(metormin)
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"improves tissue sensitivity ie. reduce insulin resistance. Stimulates AMP kinase
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Warfarin
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"blocks
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isoniazid
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"TB
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MTX and 5-FU
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"Misincorporation of uracil when it should be thymidine
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Mycophenolic acid
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"inhibits B and T cell proliferation; uncompetitive inhibitor
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9. Levodopa
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drug for parkinsons, has a short half-life (1-2 hours) because some of it is already decarboxylatedin the GI tract and peripheral tissues before it reaches the brain.
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Carbidopa
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"a drug that inhibits DOPA decarboxylase
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Liver Poisoning
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"•Paracetamol.
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Puromycin
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an antibiotic that is a protein synthesis inhibitor by inhibiting translation.
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Choramphenicol
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a bacteriostatic antimicrobial. It is considered a prototypical broad-spectrum antibiotic, alongside the tetracyclines, not used in many countries
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methotrexate
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anti cancer drug, folate antagonist, inhibits DHFR by competitive inhibition and prevent recycling of folate
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penicillamine
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therapy for wilsons disease before cirhosis has begun, is an example of a copper chelator
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5-flurouricil
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competitive inhibitor of thymidylate synthase, no DNA synthesis, anti cancer agent
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Phenobarbitol
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causes hypertrophy of ER leading to an increased synthesis of bilirubin gluconyl transferase enzyme
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Sibutramine
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supresses appetite by inhibiting resotonin reuptake at hypothalamic sites that regulate uptake
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Orlistat
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inhibits gastric and pancreatic lipases in gut- supressing fat digestion, covalently binds a seryl residue at enzyme's active site
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Phospholipase A 2
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snake venom
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