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First Aid - Biochem

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mlinnie's version from 2018-11-09 22:45

notes

Question Answer
locations of collagen types = Be So Totally Cool, Read BooksType I: bone, skin, tendon; Type II: cartilage; Type III: reticulin; Type IV: basement membrane
defects in collagen typesType I: osteogenesis imperfecta; Type II: death in utero; Type III: Ehlers-Danlos; Type IV: Alport syndrome
4 stages of collagen synthesisintracellular: preprocollagen and procollagen; extracellular: tropocollagen and collagen fibrils
Prader-Willi vs Angelman?Imprinting defect: P-W, maternal allele normal inactivation + paternal allele deleted
AngelMan, paternal allele normal inactivation + maternal allele deleted
triplet repeat disorders = TRI HUNTING for MY FRIED XHuntingtons (CAG); myotonic dystrophy (CTG); Friedreich's ataxia (GAA); fragile X (CGG)
2 drugs in ethanol metabolism?fomepizole: inhibits ADH, tx alcohol poisoning; disulfiram (Antabuse): inhibits ALDH --> hangover symptoms, tx alcoholism
deficient enzyme in fructose intolerance?Aldolase B
deficient enzyme in classic galactosemia?uridyltransferase
essential amino acids? PVT TIM HALLphenylalanine, valine, threonine, tryptophan, isoleucine, methionine, histidine, arginine, leucine, lysine
glycogen storage diseases = Very Poor Carb MetabolismVon Gierke (typeI, liver, glucose-6-phosphatase)
Pompe's (typeII, heart, lysosomal a-1,4-glucosidase[acid maltase])
Cori's (typeIII, debranching enzyme [a-1,6-glucosidase])
McArdle's (typeIV, muscle, glycogen phosphorylase)
2 homocysteinuria vitamin/product defects?homocysteine via B12 --> methionine
homocysteine via B6 --> cysteine
blotting procedures = SNoW DRoPSouthern - DNA, Northern - RNA, Western - Protein
genetic deletion in Cri-du-chat5p-
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genes/chromosomes related to auto dom diseases

Question Answer
achondroplasia, genefibroblast growth factor receptor 3 (FGFR3)
familial adenomatous polyposis, chrchr 5
Huntington's, chrchr 4
Marfan's, genefibrillin
MEN2, generet
neurofibromatosis type 1, chrchr 17
neurofibromatosis type 2, chrchr 22
von Hippel-Lindau, chrchr 3
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genes/chromosomes related to auto rec diseases

Question Answer
CF, geneCFTR
DMD, genedystrophin
Lesch-Nyhan, geneHGPRT
Fragile-X, geneFMR1
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rate-determining enzymes of metabolic processes

Question Answer
Phosphofructokinase-1glycolysis
Fructose-1,6-bisphosphatasegluconeogenesis
Isocitrate dehydrogenaseTCA cycle
Glycogen synthaseGlycogen synthesis
Glycogen phosphorylaseGlycogenolysis (def in McArdle's, TypeV GSD)
Glucose-6-phosphate dehydrogenase (G6PD)HMP shunt
Carbamoyl phosphate synthetase IIDe novo pyrimidine synthesis
Glutamine-PRPP amidotransferaseDe novo purine synthesis
Carbamoyl phosphate synthetase IUrea cycle
Acetyl-CoA carboxylase (ACC)Fatty acid synthesis (citrate shuttle)
Carnitine acyltransferase I (CAT I)Fatty acid oxidation (carnitine shuttle)
HMG-CoA synthaseKetogenesis
HMG-CoA reductaseCholesterol synthesis
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