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61 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Nucleotide excision repair
(deficiency) |
Xeroderma pigmentosa
dry skin with melanoma and other cancer risk |
eXcision
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Mismatch repair
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Hereditary nonpolyposis colorectal carcinoma
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Three sites on ribosome and function thereof
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A -- Initial binding of amino acid tRNA
P -- Translocation of growing peptide E -- Empty tRNA Exits |
A-P-E
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Amino acid responsible for
N-linkage |
Asn
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Amino acids responsible for
O-linkage |
Ser
Thr |
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Amino acid responsible for
Sulfation |
Tyr
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Chediak-Higashi syndrome
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Auto Recessive Microtubule deficiency leading to:
Peripheral neuropathy Failure of phagocytosis Recurrent staph and strep Partial albinism |
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Two motors acting on microtubules
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Dynein -- retrograde
Kinesin -- anterograde |
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Kartagener's Syndrome
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Deficient dynein
Situs inversus Sperm defect Recurrent lung and airway infections bronchiectasis |
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Collagen type I
main constituent of... |
Bone (B-One)
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Collagen type II
main component of: |
Cartilage
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Car-two-lage
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Cartilage type III
main component of: |
(Reticulin)
Skin blood vessels uterus fetal tissue granulation tissue |
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Cartilage type IV
main component of: |
Basement membrane
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Under the Floor
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Ehlers-Danlos Syndrome
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Defect in collagen synthesis
Usually type III collagen Hyperextensible skin Bleeding (vascular break) Hypermobile joint Berry aneurysm |
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Osteogenesis imperfecta
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Defect in collagen I
Multiple fractures Blue sclera Hearing loss Dental problems |
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Cimentin stain
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stains for connective tissue
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Desmin stain
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Stains for Muscle
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Cytokeratin stain
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stains for epithelial cells
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GFAP stain
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stains for glia
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Glial Fibrillary Acid Protein
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Neurofilament stain
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Stains for neurons
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Hexokinase
Function Expression pattern |
Phosphorylation of glucose at 6 carbon
(high affinity/low capacity) Expressed ubiquitously |
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Glucokinase
Function Expression pattern |
Phosphorylation of 6-carbon in glucose
(Low affinity/High capacity) Expressed in liver only |
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Phosphofructokinase
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Fructose 6-phosphate --> Fructose 1,6 bisphosphate
Activated by: AMP *Fructose 2,6 BP* *Inhibited by:* ATP citrate |
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Pyruvate kinase
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Phosphoenolpyruvate --> Pyruvate (inverted!)
* Activators * Fructose 1,6 bisphosphate * Inhibitors * ATP alanine |
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Pyruvate Dehydrogenase
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Pyruvate --> Acetyl CoA
Requires: Pyrophosphate, FAD, NAD, CoA, Lipoic acid * Inhibitors * ATP NADH Acetyl CoA |
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Glycolytic Enzyme Deficiency
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95% Pyruvate kinase
also hexokinase, aldolase, enolase, phosphate glycerate kinase Hemolytic anemia |
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Pyruvate Dehydrogenase Deficiency
Causes Findings Tx |
* Causes *
Hereditary Nutrient deficiency (e.g. B1 in alcoholics) * Findings * Neurologic deficits * Tx * Ketogenic diet (bypass) i.e. high fat or high lysine/leucine |
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Pyruvate carboxylase
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Pyrvate --> Pyruvate
Requires: Biotin ATP |
Gluconeogenesis
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PEP carboxykinase
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Oxaloacetate --> Phosphoenolpyruvate
Requires: GTP |
Gluconeogenesis
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G6PD
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X-linked Recessive
HMP shunt deficiency --> increased oxidative stress * Triggers * Fava beans Sulfa drugs Primaquine Anti-mycobacterial * Findings * Hemolytic anemia with bite cells Heinz bodies (oxidized Hg) |
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Aldolase B deficiency
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Fructose intolerance
Accumulation of Fructose-1-phosphate, and depletion of phosphate * Findings * Hypoglycemia Jaundice Cirrhosis Vomiting |
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Fructokinase deficiency
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Essential fructosuria (benign)
* Findings * Fructose in blood and urine |
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Galactosemia
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Galactose-1-phosphate uridyl transferase deficiency
(accumulation of galactitol) * Findings * Cataracts Hepatosplenomegaly Mental Retardation |
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Essential Amino Acids
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P henylalanine
V aline T ryptophan T hreonine I soleucine M ethionine H istidine A rginine L ysine L eucine |
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Hyperammonemia
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e.g. ornithine transcarbamoylase deficiency
* Findings * Tremor Slurring Somnolence Vomiting Cerebral Edema Blurred vision * Tx * Arginine -- push two steps behind ornithine |
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Phenylketonuria
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Phenylalanine hydroxylase deficiency
Tetrahydrobiopterin deficiency * Findings * Mental Retardation Growth Retardation Fair Skin (tyrosine --> melanin) Eczema Musty body odor * Tx * Reduce phenylalanine Increase tyrosine |
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Maple Syrup Disease
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I Love Vermont
Isoleucine Leucine Valine Deficiency in alpha ketoacid dehydrogenase * FIndings * Severe CNS defects Retardation Death |
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Alkaptonuria
(ochronosis) |
Homogentistic acid oxidase deficiency (failed degradation of tyrosine)
Benign * Findings * Urine black on standing Dark connective tissues Arthralgia |
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Albinism
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Tyrosinase deficiency
Tyr transporter deficiency Neural crest migration defect * Findings * Albinism + skin cancer |
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Homocystinuria
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Cystathionine synthase deficiency
Reduced affinity of cyst synthase for vitamin B6 Methionine synthase deficiency * Findings * Mental retardation Tall stature kyphosis Lens subluxation Atherosclerosis |
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Cystinuria
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Defective renal transporter for COLA
Cysteine Ornithine Lysine Arginine * Findings * Cysteine kidney stones * Tx * Alkalinization of urine (acetazolamide) |
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Adenosine Deaminase Deficiency
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Adenosine --> Inosine
leads to excess dATP and inhibits lymphocytes |
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Lesch-Nyhan syndrome
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HGPRT deficiency
hypoxanthine --> Inosine monophosphate Guanine --> GMP Causes excess uric acid production Retardation Self-mutilation Aggression Hyperuricemia Gout Choreoathetosis |
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Von Gierke's Dz
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Glucose-6-phosphatase deficiency
Severe fasting hypoglycemia Liver glycogen + hepatomegaly increased Blood lactate |
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Pompe's Dz
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Lysosomal alpha-1,4-glucosidase
Cardiomegaly Liver issues Muscle issues Early Death |
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Cori's Dz
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Alpha-1,6-glucosidase (debranching) deficiency
Like Von Gierke's only milder Hepatomegaly Serum lactate Fasting hypoglycemia |
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McArdle's Dz
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Muscle phosphorylase deficiency
Glycogen accumulation in muscle Muscle cramps myoglobinuria |
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Fabry's Dz
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Alpha-galactosidase A
accumulates ceramide trihexoside Peripheral neuropathy Angiokeratomas CV/renal dz |
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Gaucher's Dz
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Beta-glucocerebrosidase
Accumulates glucocerebroside Hepatosplenomegaly Aseptic femur necrosis Bone crisis Gaucher's macrophages |
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Niemann-Pick Dz
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Sphingomyelinase
Accumulates sphingomyelin Progressive neurodegeneration Hepatosplenomegaly Cherry-red spot on macula |
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Tay-Sach's Dz
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Hexosaminidase A
Accumulates GM2 ganglioside Progressive neurodegeneration Developmental delay Cherry-red spot on macula Lysozymes Onion skin |
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Krabbe's Dz
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Beta-galactosidase
Galactocerebroside Peripheral Neuropathy Developmental delay optic atrophy |
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Metachromatic leukodystrophy
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Arylsulfatase A
Accumulates cerebroside sulfate Central and peripheral demyelination Ataxia Dementia |
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Hurler's syndnrome
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Alpha-L-iduronidase
Heparan sulfate Developmental delay gargoylism airway obstruction corneal clouding Hepatosplenomegaly |
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Hunter's Syndrome
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Induronate sulfatase
Heparan sulfate Aggressive behavior milder hurler's syndrome (gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly) |
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Familial hyperchylomicronemia
(Type I dyslipidemia) |
Lipoprotein lipase deficiency
(accumulate chylomicrons) Elevated TG Elevated Cholesterol |
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Familial Hypercholesterolemia
(Type II dyslipidemia) |
Deficiency in LDL receptors
(accumulation of LDL) Increased cholesterol |
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Familial Combined Hyperlipidemia
(Type IIb dyslipidemia) |
Hepatic overproduction of VLDL
(accumulation of LDL and VLDL) High TG High Cholesterol |
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Familial Dysbetalipoproteinemia
(Type III dyslipidemia) |
Altered Apo E
(accumulation of IDL and VLDL) Increased TG Increased cholesterol |
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Familial Hypertriglyceridemia
(Type IV dyslipidemia) |
Hepatic overproduction of VLDL
Increased TG |
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Familial mixed hypertriglyceridemia
(Type V dyslipidemia) |
Reduced clearance of VLDL and chylomicrons
Increased TG Increased cholesterol |
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