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17 Cards in this Set
- Front
- Back
What are phenylketones?
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Urine products that accumulate in PKU (phenylalanine hydroxylase or THB deficiency).
1) Phenyl-pyruvate 2) Phenyl-lactate 3) Phenyl-acetate |
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What causes alkaptonuria? What are the findings?
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Deficiency of: HGA Oxidase
(Homogentisic acid oxidase) 1) Dark stuff: - Dark CT - Dark urine (turns black) - Dark sclera (brown) 2) Arthralgias - HGA is toxic to cartilage |
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Causes of albinism (oculocutaneous)?
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1) Enzyme deficiency = Tyrosinase
2) Transport problem = defective tyrosine transporters 3) Migration problem = failure of neural crest cells |
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What is the active form of vitamin B6?
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Pyridoxal phosphate.
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What are the causes and treatments of homocystinuria?
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1) Cystathionine synthase deficiency
- Tx = ↓Met; ↑Cys, ↑B12 & Folate (reduce homocysteine) 2) Cystathionine Synthase Affinity (↓ for B6) - Tx = ↑↑B6! 3) Homocysteine methyltransferase deficiency |
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What disorders are associated w/ lens subluxation?
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1) Marfan's syndrome
2) Homocystinuria |
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What drug do you give to alkalinize the urine??
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Acetazolamide!
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What causes cystinuria and what does it lead to?
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Defective transporter in the PCT for COLA AA's:
- C - cysteine - O - ornithine - L - lysine - A - arginine Leads to Cystine (2 x cysteines connected by S-S bond) Kidney stones → Cystine Staghorn Calculi |
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What causes maple syrup disease?
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↓α-ketoacid dehydrogenase → unable to degrade the branched amino acids:
- Ile = isoleucine - Leu = leucine - Val = valine (I L-ove V-ermont maple syrup from maple trees [w/ BRANCHES]) Causes severe CNS defects, MR, and death |
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What is Hartnup disease?
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Defective renal/intestinal transporter for NEUTRAL amino acids.
Tryptophan lost in urine and ↓ absorbed in gut. |
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What is pellagra?
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Niacin (B3) deficiency.
D's of B3 Deficiency: - Diarrhea - Dementia - Dermatitis &.... DEATH |
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What is the function of Apo E?
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mEdiates rEmnant uptakE
Found in ALL but LDL |
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What is the function of Apo A-1?
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Activates lcAt
- Chylomicron - HDL |
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What is the function of Apo B-100?
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B-inds LDL receptor
- VLDL - IDL - LDL |
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What is the function of Apo B-48?
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Medicates chylomicron secretion
- Chylomicron & remnant |
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What is the function of Apo C-II?
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C-ofactor for LL (Lipoprotein Lipase = 2L's)
- C-hylomycron - vLdL (=2L's) |
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What is the function of Apo C-III?
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Inhibits LPL
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