MCQs on Inborn Errors of Metabolism

1. Defective enzyme in Hurler’s syndrome is :

A. C-acetyl transferase
B. Arylsulphatase B
C. Iduronate sulphatase
D. – L- iduronidase
2. Defective enzyme in Hunter’s syndrome is
A. Iduronate sulphatase
B. Arylsulphatase B
C. C-acetyl transferase
D. – L – iduronidase
3. In Hurler’s syndrome , urine shows the presence of
A. Keratan sulphate II
B. Dermatan sulphate and heparan sulphate
C. Chondroitin sulphate
D. Keratan sulphate I
4. An important feature of Von-Gierke’s disease is
A. Respiratory alkalosis
B. Hypoglycemia
C. Cardiac failure
D. Muscle cramps
5. In Hunter’s syndrome
A. Hearing loss is perceptive
B. Enzyme defective is arylsulphatase B
C. Keratan sulphate is excreted in the urine
D. There is progressive corneal opacity
6. The affected organ in Mc Ardle’s syndrome is
A. Liver
B. Liver and Heart
C. Kidney
D. Skeletal muscle
7. An important finding in Refsum’s disease is
A. Skin eruptions
B. Accumulation of gangliosides in brain and spleen
C. Accumulation of phytanic acid in the blood and tissues
D. Accumulation of ceramide trihexoside in the kidney
8. Refsum’s disease is due to deficiency of the enzyme
A. Ceramide trihexosidase
B. Galactocerebrosidase
C. Glucocerebrosidase
D. Phytanate - - oxidase
9. – Galactosidase enzyme is defective in
A. Fabry’s disease
B. Sandhoff’s disease
C. Refsum’s disease
D. Tay-sach’s disease
10. Tay- sach’s disease is due to deficiency of
 A. Arylsulphatase A
B. Hexosaminidase A
C. Galactocerebrosidase
D. Sphingomyelinase
11. The enzyme ceramidase is deficient in
A. Refsum’s disease
B. Sandhoff’s disease
C. Fabry’s disease
D. Farber ‘s disease
12. The enzyme deficient in Krabbe’s disease is
A. – Fucosidase
B. – Galactosidase
C. Arylsulphatase A
D. Hexosaminidase A
13. An important finding in Tay-sach’s disease is
A. Anemia
B. Cardiac failure
C. Accumulation of gangliosides in brain and spleen
D. Renal failure
14. Wolman’s disease is due to deficiency of
A. Cholesteryl ester hydrolase
B. Hexosaminidase A
C. -Fucosidase
D. Arylsulphatase A
15. Niemann-Pack disease is due to deficiency of the enzyme
A. Sphingomyelinase
B. Galactocerebrosidase
C. Glucocerebrosidase
D. Ceramidase
16. Jamaican vomiting sickness is due to inactivation of the enzyme
A. Thiolase
B. Acyl – CoA dehydrogenase
C. Acyl – CoA synthetase
D. Pyruvate carboxylase
17. The enzyme deficient in Sandhoff’s disease is
A. -Fucosidase
B. Hexosaminidase A and B
C. – Galactosidase
D. – Glucosidase
18. Zellweger’s syndrome is due to inherited absence of
A. Phospholipase A 1
B. Peroxisomes
C. Acyl-CoA dehydrogenase
D. Thiolase
19. An important finding of Fabry’s disease is
A. Mental retardation
B. Hemolytic anemia
 C. Exophthalmos
D. Skin rash
20. An important feature of Zellweger’s syndrome is
A. Hypogllycemia
B. Skin eruptions
C. Accumulation of phytanic acid in tissues
D. Accumulation of C26 -C38 polyenoic acid in brain tissues
21. Characteristic finding in Gaucher’s disease is
A. Deafness
B. Hepatosplenomegaly
C. Renal failure
D. Night blindness
22. Gaucher’s disease is due to deficiency of the enzyme
A. – Galactosidase
B. Galactocerbroside
C. Glucocerebroside
D. Sphingomyelinase
23. Fucosidosis is characterized by
A. Kidney failure
B. Skin rash
C. Liver enlargement
D. Muscle spasticity
24. An important finding in Neimann-Pick disease is
A. Hepatosplenomegaly
B. Corneal opacity
C. Cardiac enlargement
D. Leukopenia
25. Metachromatic leukodystrophy is due to deficiency of enzyme
A. Hexosaminidase A
B. Ceramidase
C. Arylsulphatase A
D. – Fucosidase
26. A significant feature of Broad Beta disease is
A. Abnormality of Apo-E
B. Absence of Apo-D
C. Hypotriacylglyceralemia
D. Hypocholesterolemia
27. A significant feature of Tangier disease is
A. Absence of Apo-C -I
B. Absence of Apo-C-II
C. Hypotriacylglycerolemia
D. Impairment of chylomicron formation
28. Tricorrhexis nodosa is a characteristic finding of
A. Hyperargininemia
B. Phenylketonuria
C. Citrullinemia
D. Argininosuccinic aciduria
29. Absence of the enzyme argininosuccinate synthetase causes
A. Citrullinemia
B. Tricorrhexis nodosa
C. Hyperarginemia
D. Argininosuccinic acisuria
30. An important finding in Hyperammonemia type II is
A. Increased carbamoyl phosphate synthetase level
B. Mental retardation
C. Enlarged liver
D. Increased serum glutamine level
31. Enzyme deficient in Hyperammonemia type II is
A. Glutaminase
B. Ornithine transcarbamoylase
C. Glutamine synthetase
D. Carbamoyl phosphate synthetase
32. Bassen – Kornzweig syndrome is due to
A. Absence of Apo-C – II
B. Defect in Apo-B synthesis
C. Absence of Apo-D
D. Absence of Apo-E
33. Elevated blood argininosuccinate level is found in
A. Hyperargininemia
B. Argininosuccinic aciduria
C. Tyrosinosis
D. Citrullinemia
34. Albinism is due to deficiency of the enzyme
A. Tyrosinase
B. Phenylalanine hydroxylase
C. P-Hydroxyphenylpyruvic acid oxidase
D. Tyrosine dehydrogenase
35. Hyperargininemia, a defect in urea synthesis develops due to deficiency of the
enzyme
A. Arginase
B. Argininosuccinate synthetase
C. Argininosuccinase
D. Ornithine transcarbamoylase
36. Neonatal tyrosinemia is due to deficiency of the enzyme
A. Tyrosine dehydrogenase
B. Phenylalanine hydroxylase
C. Fumarylacetoacetate hydrolase
D. P-Hydroxyphenylpyruvate hydroxylase
37. Neonatal tyrosinemia improves on administration of
A. Ascorbic acid
B. Pyridoxine
C. Riboflavin
D. Thiamin
38. Richner-Hanhart syndrome is due to defect in
 A. Fumarylacetoacetate hydrolase
B. Hepatic tyrosine transaminase
C. Phenylalanine hydroxylase
D. Tyrosinase
39. Absence of phenylalanine hydroxylase causes
A. Neonatal tyrosinemia
B. Albinism
C. Phenylketonuria
D. Primary hyperoxaluria
40. Plasma tyrosine level in Richner-Hanhart syndrome is
A. 8-10 mg/dL
B. 4-5 mg/dL
C. 2-3 mg/dL
D. 1-2 mg/dL
41. An inborn error , maple syrup urine disease is due to deficiency of the enzyme
A. – Ketoacid decarboxylase
B. Adenosyl transferase
C. Phenylalanine hydroxylase
D. Isovaleryl-CoA dehydrogenase
42. In glycinuria daily urinary excretion of glycine ranges from
A. 1100-1400 mg
B. 600 – 1000 mg
C. 300 – 500 mg
D. 100 – 200 mg
43. An important finding in glycinuria is
A. Defect in renal tubular reabsorption of glycine
B. Significantly increased serum glycine level
C. Deficiency of enzyme glycinase
D. Excessive excretion of oxalate in the urine
44. Increased urinary indole acetic acid is diagnostic of
A. Phenylketonuria
B. Homocystinuria
C. Hartnup disease
D. Maple syrup urine disease
45. An important finding in Histidinemia is
A. Impairment of conversion of – Glutamate to – ketoglutarate
B. Decreased urinary histidine level
C. Speech defect
D. Patients can not be treated by diet
46. Tyrosinosis is due to defect in the enzyme
A. Tyrosine hydroxylase
B. Tyrosine transaminase
C. P-Hydroxyphenylpyryvate hydroxylase
D. Fumarylacetoacetate hydrolase
47. Amount of phenylacetic acid excreted in the urine in phenylketonuria is
A. 600- 750 mg/dL
B. 290 – 550 mg/dL
 C. 200 – 280 mg/dL
D. 100 – 200 mg/dL
48. Ochronosis is an important finding of
A. Richner Hanhart syndrome
B. Alkaptonuria
C. Tyrosinosis
D. Tyrosinemia
49. An important feature of maple syrup urine disease is
A. Excessive brain damage
B. Blood levels of leucine , isoleucine and serine are increased
C. Without treatment death, of patient may occur by the end of second year of life
D. Patient cannot be treated by dietary regulation
50. Alkaptonuria occurs due to deficiency of the enzyme
A. Maleylacetoacetate isomerase
B. P-Hydroxyphenylpyruvate hydroxylase
C. Fumarylacetoacetate hydrolase
D. Homogentisate oxidase
51. Maple syrup urine disease becomes evident in extra uterine life by the end of
A. Fourth week
B. Third week
C. Second week
D. First week