‫معهد اإلسراء لمعادله الصيدله‬

DR-Israa kadhim

Inborn error

5. Gaucher’s disease is due to the deficiency of the enzyme:

(A) α-Fucosidase

(B) β-Galactosidase

(C) β-Glucosidase

(D) Sphingomyelinase

Ans c

6. Neimann-Pick disease is due to the defi- ciency of the enzyme:

(A) Hexosaminidase A and B

(B) Ceramidase

(C) Ceramide lactosidase

(D) Sphingomyelinase

Ans D

7. Krabbe’s disease is due to the deficiency of the enzyme:

(A) Ceramide lactosidase

(B) Ceramidase

(C) β-Galactosidase

(D) GM1 β-Galactosidase

Ans D

8. Fabry’s disease is due to the deficiency of the enzyme:

(A) Ceramide trihexosidase

(B) Galactocerebrosidase

(C) Phytanic acid oxidase

(D) Sphingomyelinase

Ans A

9. Farber’s disease is due to the deficiency of the enzyme:

(A) α-Galactosidase

(B) Ceramidase

(C) β-Glucocerebrosidase

(D) Arylsulphatase A.

Ans B

53. Serum acid phosphatase level increases

in

(A) Metastatic carcinoma of prostate

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‫معهد اإلسراء لمعادله الصيدله‬

(B) Myocardial infarction

(C) Wilson’s disease

(D) Liver diseases

Ans A ‫خارجي‬

54. Serum a lka l ine phosphatase leve l increases in

(A) Hypothyroidism

(B) Carcinoma of prostate

(C) Hyperparathyroidism

(D) Myocardial ischemia

Ans c ‫مهم‬

55. Serum lipase level increases in

(A) Paget’s disease

(B) Gaucher’s disease

(C) Acute pancreatitis

(D) Diabetes mellitus

Ans c

56. Serum ferroxidase level decreases in

(A) Gaucher’s disease

(B) Cirrhosis of liver

(C) Acute pancreatitis

(D) Wilson’s disease

Ans D

59. LDH1 and LDH2 are elevated in

(A) Myocardial infarction

(B) Liver disease

(C) Kidney disease

(D) Brain disease

Ans A

92. Hexokinase is inhibited in an allosteric manner by

(A) Glucose-6-Phosphate

(B) Glucose-1-Phosphate

(C) Fructose-6-phosphate

(D) Fructose-1, 6-biphosphate

Ans A

136. Mc Ardle’s syndrome is characterized by the absence of

(A) Liver phosphorylase

(B) Muscle phosphorylase

(C) Branching enzyme

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(D) Debranching enzyme

Ans B

137. Pompe ’s d isease is caused due to deficiency of

(A) Lysosomal α-1→4 and 1→6-glucosidase

(B) Glucose-6-phosphatase

(C) Glycogen synthase

(D) Phosphofructokinase

Ans A

138. Amylopectinosis is caused due to absence of

(A) Debranching enzyme

(B) Branching enzyme

(C) Acid maltase

(D) Glucose-6-phosphatase

Ans B

139. Her’s disease is characterized by deficien- cy of

(A) Muscle phosphorylase

(B) Liver phosphorylase

(C) Debranching enzyme

(D) Glycogen synthase

Ans B

140. Tarui disease is characterized by the deficiency of the enzyme:

(A) Liver phosphorylase

(B) Muscle phosphorylase

(C) Muscle and erythrocyte phosphofructokinase

(D) Lysosomal acid maltase

Ans c

141. The hexose monophosphate pathway includes the enzyme:

(A) Maltase dehydrogenase

(B) Hexokinase

(C) α-Ketoglutarate dehydrogenase

(D) Glucose-6-phosphate dehydrogenase

Ans D

Hemolytic anemia is caused by the deficiency of certain enzymes of the pentose

phosphate pathway, the principal enzyme involved is

(A) Glucose-6-phosphate dehydrogenase

(B) Aldolase

(C) Fructose 1, 6-bisphosphatase

(D) Phosphohexose isomerase

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Ans A

154. The enzyme glucose 6-phosphatase is present in

(A) Liver

(B) Muscle

(C) Adipose tissue

(D) Brain

Ans A

163. Galactose 1-phosphate is converted to uridine diphosphate galactose, the

reaction is catalysed by the enzyme:

(A) Glactokinase

(B) Galactose 1-phosphate uridyl transferase

(C) Uridine diphospho galactose 4-epimerase

(D) UDP glucose pyrophosphorylase

Ans B

164. The best known cause of galactosemia is the deficiency of

(A) Galactose 1-phosphate and uridyl transferase

(B) Phosphoglucomutase

(C) Galactokinase

(D) Lactose synthase

Ans a

173. Renal glycosuria is characterized by

(A) Hyperglycemia

(B) Hyperglycemia with glycosuria

(C) Normal blood glucose level with glycosuria

(D) Hyperglycemia with ketosis

Ans c

174. Acute hemolytic anemia in person’s

sen- sitive to the Fava beans is due to the defi- ciency of the enzyme:

(A) Pyruvate dehydrogenase

(B) G-6-PD

(C) Aconitase

(D) Transketolase

Ans B

175 Acute hemolytic episode after administra- tion of antimalarial, primaquin, is due

to deficiency of the enzyme:

(A) 6-Phosphogluconate dehydrogenase

(B) Glucose-6-phosphate dehydrogenase

(C) Epimerase

(D) Transketolase

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‫معهد اإلسراء لمعادله الصيدله‬

Ans B

248. Hypercholesterolemia is found in

(A) Xanthomatosis

(B) Thyrotoxicosis

(C) Hemolytic jaundice

(D) Malabsorption syndrom

Ans A

249. Hypocholesterolemia is found in

(A) Thyrotoxicosis

(B) Diabetes mellitus

(C) Obstructive jaundice

(D) Nephrotic syndrome

Ans A

250. The major source of extracellular cholesterol for human tissue is

(A) Very low density lipoprotein

(B) High density lipoprotein

(C) Low density lipoprotein

(D) Albumin

Ans c

251. Correct ordering of lipoprotein molecules from lowest to the greater density is

(A) LDL, IDL, VLDL, chylomicron

(B) Chylomicron, VLDL, IDL, LDL

(C) VLDL, IDL, LDL, chylomicron

(D) LDL, VLDL, IDL, chylomicron

252. In Hurler’s syndrome, urine shows the presence of

(A) Keratan sulphate I

(B) Chondroitin sulphate

(C) Dermatan sulphate and heparan sulphate

(D) Keratan sulphate II

Ans c

253. Defective enzyme in Hunter’s syndrome

is

(A) α-L-iduronidase

(B) Iduronate sulphatase

(C) Arylsulphatase B

(D) C-acetyl transferase

Ans B

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‫معهد اإلسراء لمعادله الصيدله‬

254. In Hunter’s syndrome

(A) There is progressive corneal opacity

(B) Keratan sulphate is excreted in the urine

(C) Enzyme defective is arylsulphatase B

(D) Hearing loss is perceptive

Ans D

255. An important feature of Von-Gierke’s disease is

(A) Muscle cramps

(B) Cardiac failure

(C) Hypoglycemia

(D) Respiratory alkalosis

Ans c

256. The affected organ in Mc Ardle’s syndrome is

(A) Liver

(B) Kidney

(C) Liver and Heart

(D) Skeletal muscle

Ans D

257. Refsum’s disease is due to deficiency of the enzyme:

(A) Pytantate-α-oxidase

(B) Glucocerebrosidase

(C) Galactocerebrosidase

(D) Ceramide trihexosidase

Ans A

258. An important finding in Refsum’s disease

is

(A) Accumulation of ceramide trihexoside in the kidney

(B) Accumulation of phytanic acid in the blood and tissues

(C) Accumulation of gangliosides in brain and spleen

(D) Skin eruptions

Ans B

259. α-Galactosidase enzyme is defective in

(A) Tay-sach’s disease

(B) Refsum’s disease

(C) Sandhoff’s disease

(D) Fabry’s disease

Ans D

260. The hypothesis to explain enzyme– substrate complex formation:

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‫معهد اإلسراء لمعادله الصيدله‬

(A) Lock and key model

(B) Induced fit theory

(C) Proenzyme theory

(D) Both (A) and (B)

Ans c

261. An important finding in Tay-sach’s disease is

(A) Renal failure

(B) Accumulation of gangliosides in brain and spleen

(C) Cardiac failure

(D) Anemia

Ans B

262. The enzyme deficient in Krabbe’s disease is

(A) Hexosaminidase A

(B) Arylsuphatase A

(C) β-Galactosidase

(D) α-Fucosidase

Ans c

263. The enzyme ceramidase is deficient in

(A) Farber’s disease

(B) Fabry’s disease

(C) Sandhoff’s disease

(D) Refsum’s disease

Ans A

264. Niemann-Pick disease is due to deficiency of the enzyme

(A) Ceramidase

(B) Glucocerebrosidase

(C) Galactocerebrosidase

(D) Sphingomyelinase

Ans D

265. Wolman’s disease is due to deficiency of

(A) Cholesteryl ester hydrolase

(B) Hexosaminidase A

(C) α-Fucosidase

(D) Arylsulphatase A

Ans A

266. The enzyme deficient in Sandhoff’s disease

is

(A) α-Fucosidase

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(B) Hexosaminidase A and B

(C) β-Galactosidase

(D) β-Glucosidase

Ans B

267. Jamaican vomiting sickness is due to inactivation of the enzyme

(A) Pyruvate carboxylase

(B) Acyl-Co-A synthetase

(C) Acyl-Co-A dehydrogense

(D) Thiolase

Ans c

268. Zellweger’s syndrome is due to inherited absence of

(A) Peroxisomes

(B) Phospholipase A1

(C) Acyl-Co-A dehydrogenase

(D) Thiolase

Ans A

269. Bassen-Kornzweig syndrome is due to

(A) Absence of Apo-C-II

(B) Defect in Apo-B synthesis

(C) Absence of Apo-E

(D) Absence of Apo-D

Ans B

270. Enzyme deficient in Hyperammonemia

type II is

(A) Glutamine synthetase

(B) Glutaminase

(C) Ornithine transcarbamoylase

(D) Carbamoylphosphate synthetase

Ans C

271. An important finding in Hyperammone-

mia type II is

(A) Increased serum gluatmine level

(B) Enlarged liver

(C) Mental retardation

(D) Increased carbamoyl phosphate synthetase

Level Ans c

272. Absence of the enzyme argininosuccinate synthetase causes

(A) Argininosuccinic aciduria

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‫معهد اإلسراء لمعادله الصيدله‬

(B) Hyperargininemia

(C) Tricorrhexis nodosa

(D) Citrullinemia

Ans A

273. Tricorrhexis nodosa is a characteristic find- ing of

(A) Argininosuccinic aciduria

(B) Citrullinemia

(C) Phenylketonuria

(D) Hyperargininemia

Ans D

274. Elevated blood argininosuccinate level is found in

(A) Hyperargininemia

(B) Argininosuccinic aciduria

(C) Citrullinemia

(D) Tyrosinosis

Ans A

275. Hyperargininemia, a defect in urea syn- thesis develops due to deficiency of the

enzyme:

(A) Ornithine transcarbamoylase

(B) Argininosuccinase

(C) Arginase

(D) Argininosuccinate synthetase

Ans B

276. Albinism is due to deficiency of the enzyme:

(A) Phenylalanine hydroxylase

(B) Tyrosinase

(C) p-Hydroxyphenylpyruvic acid oxidase

(D) Tyrosine dehydrogenase

Ans c

277. Neonatal tyrosinemia is due to deficiency of the enzyme:

(A) p-Hydroxyphenylpyruvate hydroxylase

(B) Fumarylacetoacetate hydrolase

(C) Phenylalanine hydroxylase

(D) Tyrosine dehydrogenase

Ans B

278. Which of the following is a substrate- specific enzyme?

(A) Hexokinase

(B) Thiokinase

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‫معهد اإلسراء لمعادله الصيدله‬

(C) Lactase

(D) Aminopeptidase

Ans c

321. Alkaline phosphatase is present in

(A) Liver

(B) Bones

(C) Intestinal mucosa

(D) All of these

Ans D

430. Urea is produced physiologically by the action of the enzyme:

(A) Urease

(B) Glutaminase

(C) Arginase

(D) None of these

Ans c

431. Urease is a

(A) Lyase

(B) Ligase

(C) Isomerase

(D) Hydrolase

Ans D

468. The slow moving fraction of LDH is typically increased in pancreas with

(A) Cerebrovascular accidents

(B) Acute myocardial infarction

(C) Acute pancreatitis

(D) Acute viral hepatits

Ans D

469. Which of the following enzyme typically elevated in alcoholism?

(A) Serum ALP

(B) Serum GOT

(C) Serum γ-GT

(D) Serum acid phosphates

Ans c

470. Patients with hepatocellular jaundice, as compared to those with purely

obstruc- tive jaundice tend to have

(A) Lower serum ALP, LDH and AST activity

(B) Lower serum ALP, Higher LDH and AST activity

(C) Higher serum ALP, LDH and AST activity

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‫معهد اإلسراء لمعادله الصيدله‬

(D) Higher serum ALP, Lower LDH and AST activity

Ans B

471. If results of the serum bilirubin, serum ALP, LDH and AST determinations suggest

obstructive jaundice, the best confirmatory test would be the estimation of (A) Serum

ALT

(B) Serum 5’ nucleotidase

(C) Serum Pseudo cholinesterase

(D) None of these

Ans B

472. Which enzyme estimation will be helpful in differentiating the elevated serum

ALP found in obstructive jaundice as well as bone disorders?

(A) Serum AST

(B) Serum ALT

(C) Serum LDH

(D) Serum γ-GT

Ans D

519. The enzyme that converts glucose to glucose-6-phosphate is

(A) Phosphatase

(B) Hexokinase

(C) Phosphorylase

(D) Glucose synthetase

Ans B

225. Maple syrup urine diseases is an inborn error of metabolism of

(A) Sulphur-containing amino acids

(B) Aromatic amino acids

(C) Branched chain amino acids

(D) Dicarboxylic amino acids

Ans c

226. Cystinuria results from inability to

(A) Metabolise cysteine

(B) Convert cystine into cysteine

(C) Incorporate cysteine into proteins

(D) Reabsorb cystine in renal tubules

Ans D

227. The defective enzyme in histidinemia is

(A) Histidine carboxylase

(B) Histidine decarboxylase

(C) Histidase

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‫معهد اإلسراء لمعادله الصيدله‬

(D) Histidine oxidase

Ans C

228. All the following statements about phenylketonuria are correct except

(A) Phenylalanine cannot be converted into tyrosine

(B)Urinary excretion of phenylpyruvate and phenyllactate is increased

(C)It can be controlled by giving a low- phenylalanine diet

(D)It leads to decreased synthesis of thyroid hormones, catecholamines and melanin

ansB

229. All the following statements about albinism are correct except

(A) Tyrosine hydroxylase (tyrosinase) is absent or deficient in melanocytes

(B) Skin is hypopigmented

(C) It results in mental retardation

(D) Eyes are hypopigmented

Ans c

20. Carbamoyl phosphate required for urea synthesis is formed in

(A) Cytosol

(B) Mitochondria

(C) Both (A) and (B)

(D) None of these

Ans B

221. Cytosolic and mitochondrial carbamoyl phosphate synthetase have the following

similarity:

(A) Both use ammonia as a substance

(B) Both provide carbamoyl phosphate for urea synthesis

(C) Both require N-acetylglutamate as an activator

(D) Both are allosteric enzymes

Ans c

222. The following enzyme of urea cycle is present in cytosol:

(A) Argininosuccinic acid synthetase

(B) Argininosuccinase

(C) Arginase

(D) All of these

Ans D

402. Sphingomyelins on hydrolysis yields

(A) Glycerol, fatty acids, phosphoric acid and choline

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‫معهد اإلسراء لمعادله الصيدله‬

(B) Glycerol, sphingosine, choline and fatty acids

(C) Sphingosine, phosphoric acid, Glycerol and inositol

(D) Sphingosine, fatty acids, phosphoric acid and

Choline

Ans D

403. Inherited deficiency of enzyme cerebro- sidase produces

(A) Fabry’s disease

(B) Niemann pick disease

(C) Gaucher’s disease

(D) Tay-sach’s disease

Ans c

404. Phosphatidic acid on hydrolysis yields

(A) Glycerol, fatty acids, phosphoric acid, choline (B) Glycerol, fatty acids, phosphoric acid

(C) Glycerol, fatty acids, phosphoric acid, Glucose

(D) Sphingol, fatty acids, phosphoric acid

Ans B

311. Iodine content of thyroid gland in an adult is about

(A) 1–3 mg

(B) 4–8 mg

(C) 10–15 mg

(D) 25–30 mg

Ans c

312. Daily iodine requirement of an adult is about

(A) 50 µg

(B) 100 µg

(C) 150 µg

(D) 1 mg

Ans c

313. Consumption of iodised salt is recom- mended in

(A) Patients with hyperthyroidism

(B) Patients with hypothyroidism

(C) Pregnant women

(D) Goitre belt areas

Ans D

314. All the following statements about endemic goiter are true except

(A) It occurs in areas where soil and water have low iodine content

(B) It leads to enlargement of thyroid gland

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‫معهد اإلسراء لمعادله الصيدله‬

(C) It results ultimately in hyperthyroidism

(D) It can be prevented by consumption of iodised salt

Ans c

315. The total amount of copper in the body of an average adult is (

A) 1 gm

(B) 500 mg

(C) 100 mg

(D) 10 mg

Ans c

316. The normal range of plasma copper is

(A) 25–50 µg/dl

(B) 50–100 µg/dl

(C) 100–200 µg/dl

(D) 200–400 µg/dl

Ans c

317. Copper deficiency can cause

(A) Polycythaemia

(B) Leukocytopenia

(C) Thrombocytopenia

(D) Microcytic anaemia

Ans D

22.5 Maple syrup urine diseases is an inborn error of metabolism of

(A) Sulphur-containing amino acids

(B) Aromatic amino acids

(C) Branched chain amino acids

(D) Dicarboxylic amino acids

Ans c

226. Cystinuria results from inability to

(A) Metabolise cysteine

(B) Convert cystine into cysteine

(C) Incorporate cysteine into proteins

(D) Reabsorb cystine in renal tubules

Ans D

227. The defective enzyme in histidinemia is

(A) Histidine carboxylase

(B) Histidine decarboxylase

(C) Histidase

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‫معهد اإلسراء لمعادله الصيدله‬

(D) Histidine oxidase

Ans c

228. All the following statements about phenylketonuria are correct except (A)

Phenylalanine cannot be converted into tyrosine

(B) Urinary excretion of phenylpyruvate and phenyllactate is increased (C) It can be

controlled by giving a low- phenylalanine diet

It leads to decreased synthesis of thyroid hormones, catecholamines and melanin )D(

ans D

229. All the following statements about albinism are correct except

(A) Tyrosine hydroxylase (tyrosinase) is absent or deficient in melanocytes

(B) Skin is hypopigmented

(C) It results in mental retardation

(D) Eyes are hypopigmented

Ans c

46. Neonatal tyrosinemia improves on admi- nistration of

(A) Thiamin

(B) Riboflavin

(C) Pyridoxine

(D) Ascorbic acid

Ans A

47. Absence of phenylalanine hydroxylase causes

(A) Neonatal tyrosinemia

(B) Phenylketonuria

(C) Primary hyperoxaluria

(D) Albinism

Ans B

48. Richner-Hanhart syndrome is due to defect in

(A) Tyrosinase

(B) Phenylalanine hydroxylase

(C) Hepatic tyrosine transaminase

(D) Fumarylacetoacetate hydrolase

Ans B

49. Plasma tyrosine level in Richner-Hanhart syndrome is

(A) 1–2 mg/dL

(B) 2–3 mg/dL

(C) 4–5 mg/dL

(D) 8–10 mg/dL

Ans c

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‫معهد اإلسراء لمعادله الصيدله‬

50. Amount of phenylacetic acid excreted in the urine in phenylketonuria is

(A) 100–200 mg/dL

(B) 200–280 mg/dL

(C) 290–550 mg/dL

(D) 600–750 mg/dL

Ans c

51. Tyrosinosis is due to defect in the enzyme:

(A) Fumarylacetoacetate hydrolase

(B) p-Hydroxyphenylpyruvate hydroxylase

(C) Tyrosine transaminase

(D) Tyrosine hydroxylase

Ans A

52. An important finding in Histidinemia is (

A) Impairment of conversion of α-Glutamate to α-ketoglutarate

(B) Speech defect

(C) Decreased urinary histidine level

(D) Patients can not be treated by diet

Ans B

53. An important finding in glycinuria is

(A) Excess excretion of oxalate in the urine

(B) Deficiency of enzyme glycinase

(C) Significantly increased serum glycine level

(D) Defect in renal tubular reabsorption of glycine

Ans D

54. Increased urinary indole acetic acid is diagnostic of

(A) Maple syrup urine disease

(B) Hartnup disease

(C) Homocystinuia

(D) Phenylketonuria

Ans B

55. In glycinuria daily urinary excretion of glycine ranges from

(A) 100–200 mg

(B) 300–500 mg

(C) 600–1000 mg

(D) 1100–1400 mg

Ans c

56. An inborn error, maple syrup urine disease is due to deficiency of the enzyme:

(A) Isovaleryl-CoAhydrogenase

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‫معهد اإلسراء لمعادله الصيدله‬

(B) Phenylalnine hydroxylase

(C) Adenosyl transferase

(D) α-Ketoacid decarboxylase

Ans D

57. Maple syrup urine disease becomes evident in extra uterine life by the end of

(A) First week

(B) Second week

(C) Third week

(D) Fourth week

Ans A

58. Alkaptonuria occurs due to deficiency of the enzyme:

(A) Maleylacetoacetate isomerase

(B) Homogentisate oxidase

(C) p-Hydroxyphenylpyruvate hydroxylase

(D) Fumarylacetoacetate hydrolase

Ans B

59. An important feature of maple syrup urine disease is

A.Patient can not be treated by dietary regulation

B.Without treatment death, of patient may occur by the end of second year of life

(C) Blood levels of leucine, isoleucine and serine are increased

(D) Excessive brain damage

Ans D

60. Ochronosis is an important finding of

(A) Tyrosinemia

(B) Tyrosinosis

(C) Alkaptonuria

(D) Richner Hanhart syndrome

Ans c

454. Inborn errors of urea cycle can cause all the following except

(A) Vomiting

(B) Ataxia

(C) Renal failure

(D) Mental retardation

Ans D

455. Hyperammonaemia type I results from congenital absence of

(A) Glutamate dehydrogenase

(B) Carbamoyl phosphate synthetase

(C) Ornithine transcarbamoylase

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‫معهد اإلسراء لمعادله الصيدله‬

(D) None of these

Ans B

456. Congenital deficiency of ornithine transcarbamoylase causes

(A) Hyperammonaemia type I

(B) Hyperammonaemia type II

(C) Hyperornithinaemia

(D) Citrullinaemia

Ans B

457. A ketogenic amino acid among the fol- lowing is

(A) Leucine

(B) Serine

(C) Threonine

(D) Proline

Ans A

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