Hint | Answer |
HSM + aseptic necrosis of femur + bone crises | |
Deficiency in cystathione synthetase | |
Excess in carbamoyl phosphate | |
Hereditary deficiency of apoB-100 and ApoB-48 | |
Deficiency of a-1,4-glucosidase | |
Supplement given in PKU | |
Rapid, early, atherosclerosis | |
FTT + steatorrhea + acantholysis + ataxia + night-blindness | |
Deficiency of arylsulfatase A | |
AA becomes essential in PKU | |
Progressive neurodegeneration + developmental delay + cherry red macula + no HSM | |
HSM + Xanthomas, but no atherosclerosis | |
Inheritance of Gaucher's disease | |
AR accumulation of heparin or dermatan sulfate | |
Treatment for aldolase B deficiency | |
Increased chylomicrons | |
Substance accumulated in Krabbe's dz | |
Vomiting/hypoglycemia with first meal supplement | |
Deficiency in galactokinase | |
Substance accumulated in tay sachs | |
Accumulation of methionine | |
AD disorder of early atherosclerosis | |
Manifestation of glutathione reductase deficiency | |
Blocked degradation of branched amino acids | |
OTC deficiency inheritance | |
Vitamin that improves homocystinuria | |
G-1-P uridyl transferase deficiency | |
Deficiency of a-galactosidase A | |
Decreased activity of phenylalanine hydroxylase | |
Deficiency of Hexosaminidase A | |
Deficiency of skeletal muscle glycogen phosphorylase | |
Early-onset bilateral cataracts | |
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