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

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QUIZ: Can you name the Inborn Errors of Metabolism

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

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