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

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