Science Quiz / Goljan 2 of X: Inborn Errors of Metabolism

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Can you name the Inborn Errors of Metabolism

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Deficiency of b-glucocerebrosidase
Deficiency in cystathione synthetase
Crumpled tissue-paper macrophages
AA becomes essential in PKU
Orotic acid in urine + anemia + no hyperammonemia
Polysaccharide in lysosomes + HSM + cardiomegaly + MR
Vomiting/hypoglycemia with first meal supplement
Inheritance of fructokinase deficiency
Vitamin required to avoid methylmalonic aciduria
Inheritance of Gaucher's disease
Serum studies show very high TGs and Cholesterol
Glycogen storage disease localized to muscle
DD + gargoylism + airway obstruction + corneal clouding
Only XLR urea cycle disorder
Excess in carbamoyl phosphate
Xanthomas + pancreatitis
OTC deficiency inheritance
Accumulation of methionine
Deficiency of sphingomyelinase
Defective neutral amino acid transporter on renal-intestinal cells
HSM + aseptic necrosis of femur + bone crises
Polysaccharide in lysosomes + low exercise tolerance + muscle cramping + rhabdo
First Sx of Fabry's?
Hereditary deficiency of apoB-100 and ApoB-48
Accumulation of lipoproteins in enterocytes
Vomiting/lethargy/FTT soon after breastfeeding starts
Deficiency causes increased circulating methylmalonic acid
Peripheral neuropathy of extremities + angiokeratoma + CV disease
Inheritance of fabry's disease
Substance accumulated in Krabbe's dz
Deficiency of homogentistic acid oxidase
Peripheral neuropathy + DD + optic atrophy
FTT + steatorrhea + acantholysis + ataxia + night-blindness
Progressive neurodegeneration + HSM + cherry-red macula + foam cells
Deficiency of a-galactosidase A
Inheritance of neimann-pick dz
Manifestation of glutathione reductase deficiency
Treatment for aldolase B deficiency
Urine turns black if left standing
Inheritance of orotic aciduria
Increased chylomicrons
Deficiency of a-1,4-glucosidase
AR defect of renal tubular amino acid transporter
Deficiency of Hexosaminidase A
Deficiency of argininosuccinate synthetase
Difference in presentation between tay sachs and neimann pick
AD disorder with early xanthomas + corneal arcs
Progressive neurodegeneration + developmental delay + cherry red macula + no HSM
G-1-P uridyl transferase deficiency
Rapid, early, atherosclerosis
Thromboembolism + MR + lens subluxation
Supplement given in PKU
Deficiency in benign fructosuria
Inheritance of PKU
Substance accumulated in hurler/hunter's disease
Inheritance of hurler's syndrome
Deficiency of iduronate sulfatase
Substance accumulated in tay sachs
Substance accumulated in Neimann-Pick dz
Deficiency of arylsulfatase A
Decreased activity of tetrahydroboipterin cofactor
Deficiency of skeletal muscle glycogen phosphorylase
Deficiency in galactokinase
HSM + Xanthomas, but no atherosclerosis
Primary Sx of T2GSD (Pompe's)
Tryptophan in urine
Defect in orotidine 5-PTD puts this in urine
Only sphingolipidosis inherited XLR
Blocked degradation of branched amino acids
Deficiency in dihydrobiopterin reductase
Increased TGs
Classic finding in hartnup disease
Increased LDLs
Deficiency of G-6-Phosphatase
AD disorder of early atherosclerosis
Substance accumulated in Gaucher's dz
Early-onset bilateral cataracts
Finding in urine of OTC deficiency
Decreased activity of phenylalanine hydroxylase
Mild form of Von Gierke's disease
Deficiency of glactocerebrosidase
XLR accumulation of heparin or dermatan sulfate
Substance accumulated in fabry's disease
MR + growth retardation + musty body odor + eczema
MCC1 death in Fabry's?
Manifestation of G6PD deficiency
Manifestation of pyruvate kinase deficiency
AA becomes essential in homocystinuria
Orotic acid in urine + anemia + hyperammonemia
Vitamin that improves homocystinuria
Buildup in F1P causes hypoglycemia
MCC1 lysosomal storage disease
Inheritance of hunter's syndrome
AR accumulation of heparin or dermatan sulfate
Polysaccharide in lysosomes + FTT + HSM + hypoglycemia + HLD + hyperuricemia

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