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100 Cards in this Set
- Front
- Back
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What is the genetic problem in Down's Syndrome? ...
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trisomy 21 chromosomal imbalance
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What is the inheritance of Krabbe's disease? ...
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AR
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what is the inheritance pattern and carrier frequency in Tay-Sach's? ...
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Autosomal recessive; 1:30 in Jews of European descent and 1:300 in the general populaition
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What is the inheritance pattern of Ehlers-Danlos syndrome? ...
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10 types of this syndrome: Type IV - Auto Dominant, Type VI - Auto Recessive, Type IX - X-linked recessive
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What is the inheritance pattern of Gaucher's disease?
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AR
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What is the inheritance pattern of xeroderma pigmentosa? ...
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AR
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What is the inheritiance pattern of Fabry's disease? ...
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X-linked recessive
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What is the lab symptoms of G6PD defiency? ...
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Heinz Bodies: altered hemoglobin precipitate in RBC
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What is the most distinguishing finding in Tay-Sach's disease on Physical exam? ...
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cherry red Macula; these patients die by 3
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What is the pathogneumonic cell type founde in Gaucher's disease? ...
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Gaucher's cells with the characteristic 'crinkled paper' appearance of enlarged cytoplasm
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What is the pattern of inheritance of Leber's hereditary optic neuropathy? ...
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mitochondrial inheritance
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What is the phenotype in Osteogenesis imperfecta? ...
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increased susceptibility to fractures;connective tissue fragility
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What is the phenotype of Down's syndrome? ...
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Mental and growth retardation, dysmorphic features, internal organ anomalies especially heart problems
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What is the phenotype of Fragile X? ...
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mental retardation, characteristic facial features, large testes
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What is the predominant problem in Ehlers-Danlos syndrome? ...
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Faulty collagen synthesis
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What is the prevalance of cystic fibrosis? ...
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1:2000 whites; very rare among Asians
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What is the prevalence of Neurofibromatosis? ...
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1:3000 with 50% being new mutations
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What is the prevalence of Down's syndrome and what are the risk factors? ...
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1:800; increased risk with advanced maternal age
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What is the prevalence of Duchenne's musc. dys.? ...
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1:300; 33% new mutations
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What is the prevalence of Fragile X- associated mental retardation? ...
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1:1500 males
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What is the prevalence of osteogenesis imperfecta? ...
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1:10000
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What is the prevalence of Phenylketonuria? ...
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1:10000
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What is the priamry defect in Fructose intolerance and how is it inherited? ...
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defiency of aldolase B, autosomal recessive
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What is the primary defect in Alkaptonuria? ...
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congenital defiency of homogentisic acid oxidase in the degradative pathway of tyrosine
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What is the primary defect(s) found in Phenylketoneuria? ...
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either 1.decreased phenylalanie hydroxylase or 2. decreased tetrahydrobiopterin cofactor
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What is the rate-limiting enzyme in the Hexose-Monophosphate shunt? ...
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Glucose-6-phosphate dehydrogenase
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What is the result of pyruvate dehydrognase deficiency? ...
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backup of substrate (pyruvate and alanine) resulting in lactic acidosis
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What is the specific defect in Xeroderma pigmentosa? ...
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defective excision repair such as uvr ABC exonuclease; have inability to repair thymidine dimer formed by UV light
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What is the treament of Cystinuria and what is a possible consequence of not treating? ...
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Acetazolamide to alkalanize the urine, cystine kidney stones due to excess cysteine
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What is the treatment of fructose intolerance? ...
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decrease intake of both fructose and sucrose (glucose + fructose)
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What is the treatment of Homocystinuria? ...
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1) For a defiency in cystathionine synthase tx by decreasing Met and increasing Cys in diet 2) For decreased affinity of synthase Tx by increasing vitamin B6 in diet
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What is the Tx of galactosemia? ...
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Exclude galactose and lactose (galactose +glucose) form diet
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What offspring of females affected with a mitochondrial inherited disease will be effected? ...
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all offspring can be effected
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What percent of offspring from two autosomal recessive carrier parents will be effected? ...
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25%
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What percent of sons of a heterazygous mother carrying an x-linked disease will be effected? ...
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50%
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What period of life do autosomal dominant defects present in? ...
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often present clinically after puberty
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What three phenyl ketones build up in the urine of PKU patients? ...
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phenylacetate, phenyllactate, phenylpyruvate
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What to thyroxine and Dopa have in common? ...
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both derived form tyrosine
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What type of genetic error is usually more severe: autosomal recessive or dominant? ...
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AR disorders are often more severe
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What type of inheritance is transmitted only through mothers? ...
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mitochondrial
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When do patients usually present with autosomal recessive disorders? ...
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present in childhood
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Why are RBC so susceptible to Glycolytic enzyme def.? ...
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RBC's metabolize glucose anaerobically (no mitochondria) and depend on glycolysis
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Why do people with fructose intolerance become hypoglycemic? ...
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Deficient aldolase B causes the accumulation of Fructose 1-phosphate which acts as a phosphate sink and traps the phosphate. Decreased phosphate availability inhibits glycogenolysis and gluconeogenesis
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X-linked recessive disease is often more severe in males or females? ...
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males
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1,3-BPG to 2,3-BPG via what enzyme? ...
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bisphosphoglycerate mutase
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Common precursor for prostaglandins, -thromboxanes, -leukotrienes? ...
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Arachidonate
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At body pH, what AA are negatively charged? ...
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Asp and Glu; His is neutral at pH 7.4
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At body pH, what AA are positvely charged? ...
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Arg and Lys
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ATP to cAMP via what enzyme? ...
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adenylate cyclase
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By what rxn order kinetics does alcohol dehydrogenase operate? ..
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zero order kinetics
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Choline to ACh via what enzyme?
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choline acetyltransferase
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Contrast glucagon and insulin. ...
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glucagon phosphorylates stuff, -turns glycogen synthase off and phosphorylase on, Glucagon is catabolic and Insulin is anabolic
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Contrast hexokinase and glucokinase. ...
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hexokinase throughout the body, -GK in liver and has lower affinity but higher capacity for glucose
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Are hexokinase and glucokinase inhibited by G6P? ...
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only HK is feedback inhibited by G6P
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Does insulin affect glucose uptake of brain, RBC's and liver? ...
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No
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Does insulin inhibit glucagon release by alpha cells of pancreas? ...
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Yes
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Fructose-6-phosphate to fructose-1,6-bis-P via what enzyme? ...
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PFK (rate limiting step of glycolysis)
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glutamate to GABA via what enzyme? ...
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glutamate decarboxylase (requires vit. B6)
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GTP to cGMP via what enzmye? ...
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guanylate cyclase
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How are ketone bodies excreted? ...
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in urine
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How are ketone bodies formed? ...
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FA and AA converted to acetoacetate and b-hydroxybutyrate
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How do the statin drugs work? ...
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they inhibit HMG-CoA reductase
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How does disulfiram work? ...
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inhibits acetylaldehyde dehydrogenase
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How does FA enter the cytosol? ...
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via citrate shuttle
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How does FA enter the mitochondria? ...
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via the carnitine shuttle
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How does lead affect heme synthesis? ...
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inhibits ALA dehydratase and ferrochelatase prevents incorporation of Fe
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How does the brain metabolize ketone bodies? ...
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to 2 molecules of acetyl coA
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How is bilirubin removed from the body? ...
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collected by liver, conjugated with glucuronate excreted in bile
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How is ethanol metabolized? ...
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Ethanol oxidized to acetylaldehyde by alcohol dehydrogenase and NAD+; acetalaldehyde oxidized to acetate by acetylaldehyde dehydrogenase and NAD+.
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How is FA entering the mitochondria inhibited? ...
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By cytoplasmic malonyl-CoA.
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How is glutamate converted to a-ketogluturate? ...
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By the loss of ammonium and reduction of NADP.
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How is glutamine converted to glutamate? ...
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By the loss of ammonium
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How is heme catabolized? ...
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scavenged from RBC's and Fe+2 is reused
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How is LDL uptake undergone? ...
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by target cells through receptor-mediated endocytosis
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How is most plasma cholesterol esterified? ...
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LCAT(lecithin-cholesterol acyltransferase)
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How is NAD+ generally used metabolically? ...
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catabolic processes
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How is NADPH generally used metabolically? ...
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anabolic processes (steroid and FA synthesis), repiratory burst, P-450
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How is TCA regulated? ...
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by need for ATP and supply of NAD+
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How many ATP's per acetyl CoA? ...
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twelve
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How many ATP equivalants are needed to generate glucose from pyruvate? ...
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Six
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How many enzyme activities does pyruvate dehydrognase possess? ...
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Three
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How many moles of ATP are generated aerobically through G3P shuttle? ...
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Thirty six ATP
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How many moles of ATP are generated aerobically through malate shuttle? ...
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Thirty eight ATP
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How many moles of ATP are generated anaerobically? ...
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Two ATP
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In what tissue does heme synthesis occur (2)? ...
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liver and bone marrow
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Insulin mneumonic ...
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insulin moves glucose into cells
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Is Serum C peptide present with exogenous insulin intake? ...
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No
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Kwashikor results from a protein deficient MEAL (what does mneumonic MEAL stand for?) ...
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Malabsorption, Edema, Anemia, Liver (fatty)
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Mnemonic for gluconeogenesis irreversible enzymes? ...
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Pathway Produces Fresh Glucose
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Mnemonic for SAM? ...
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SAM the methyl donor man
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Name 6 common products of pyruvate metabolism? ...
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glucose, lactate, Acetyl CoA+CO2, OAA, Alanine
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Name the activated carriers with associated moleclues: one carbon units ...
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Tetrahydrofolates
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Name the activated carriers with associated moleclues: phosphoryl ...
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ATP
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Name the activated carriers with associated moleclues: CH(3) groups ...
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SAM
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Name the activated carriers with associated moleclues: Choline ...
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CDP-choline
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Name the activated carriers with associated moleclues: electrons carriers ...
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NADH, NADPH, FADH(2)
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Name the activated carriers with associated moleclues: Acyl ...
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coenzyme A, lipoamide
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Name the activated carriers with associated moleclues: CO(2) ...
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Biotin
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Name the activated carriers with associated moleclues: Aldehydes ...
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TPP
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Name the activated carriers with associated moleclues: Glucose ...
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UDP-glucose
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