Description : Inherited deficiency of enzyme cerebrosidase produces (A) Fabry’s disease (B) Niemann pick disease (C) Gaucher’s disease (D) Tay-sach’s disease
Last Answer : Answer : C
Description : Inherited deficiency of purine nucleoside phosphorylase causes (A) Dwarfism (B) Mental retardation (C) Immunodeficiency (D) Gout
Description : Inherited deficiency of adenosine deaminase causes (A) Hyperuricaemia and gout (B) Mental retardation (C) Immunodeficiency (D) Dwarfism
Description : In inherited deficiency of hypoxanthine guanine phosphoribosyl transferase (A) De novo synthesis of purine nucleotides is decreased (B) Salvage of purines is decreased (C) Salvage of purines is increased (D) Synthesis of uric acid is decreased
Last Answer : Answer : B
Description : Tay-Sachs disease results from inherited deficiency of (A) Arylsulphatase A (B) Hexosaminidase A (C) Sphingomyelinase (D) Ceramidase
Description : Inherited deficiency of β−glucosidase causes (A) Tay-Sachs disease (B) Metachromatic leukodystrophy (C) Gaucher’s disease (D) Multiple sclerosis
Description : Which of the following statement(s) is/are true concerning hemophilia A? a. Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII b. A positive family history for ... platelet aggregation d. Spontaneous bleeding is unusual with factor VIII levels greater than 10% of normal
Last Answer : Answer: a, d Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII although 0% of cases are secondary to spontaneous mutation. The incidence of this abnormality is ... factor levels as low as 1% have been noted and patients are at risk for spontaneous bleeding
Description : Of the following hemolytic anemias, which is categorized as inherited? a) Sickle cell anemia Glucose 6-phosphate dehydrogenase deficiency is an inherited abnormality resulting in hemolytic anemia. b ... is an acquired anemia. d) Hypersplenism Hypersplenism results in an acquired hemolytic anemia.
Last Answer : a) Sickle cell anemia Glucose 6-phosphate dehydrogenase deficiency is an inherited abnormality resulting in hemolytic anemia.
Description : All are true about lesch-nyhan syndrome except (A) Produces self-mutilation (B) Genetic deficiency of the enzyme (C) Elevated levels of uric acid in blood (D) Inheritance is autosomal recessive
Description : Orotic aciduria type II reflects the deficiency of the enzyme: (A) Orotate phosphoribosyl transferase (B) Orotidylate decarboxylase (C) Dihydroorotase (D) Dihydroorotate dehydrogenase
Description : A deficiency of copper effects the formation of normal collagen by reducing the activity of which of the following enzyme? (A) Prolyl hydroxylase (B) Lysyl oxidase (C) Lysyl hydroxylase (D) Glucosyl transferase
Description : The deficiency of copper decreases the activity of the enzyme: (A) Lysine oxidase (B) Lysine hydroxylase (C) Tyrosine oxidase (D) Proline hydroxylase
Last Answer : Answer : A
Description : Neonatal tyrosinemia is due to deficiency of the enzyme: (A) p-Hydroxyphenylpyruvate hydroxylase (B) Fumarylacetoacetate hydrolase (C) Phenylalanine hydroxylase (D) Tyrosine dehydrogenase
Description : Albinism is due to deficiency of the enzyme: (A) Phenylalanine hydroxylase (B) Tyrosinase (C) p-Hydroxyphenylpyruvic acid oxidase (D) Tyrosine dehydrogenase
Description : Hyperargininemia, a defect in urea synthesis develops due to deficiency of the enzyme: (A) Ornithine transcarbamoylase (B) Argininosuccinase (C) Arginase (D) Argininosuccinate synthetase ENZYMES 157
Description : Niemann-Pick disease is due to deficiency of the enzyme (A) Ceramidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Sphingomyelinase
Last Answer : Answer : D
Description : Refsum’s disease is due to deficiency of the enzyme: (A) Pytantate-α-oxidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Ceramide trihexosidase
Description : Acute hemolytic episode after administration of antimalarial, primaquin, is due to deficiency of the enzyme: (A) 6-Phosphogluconate dehydrogenase (B) Glucose-6-phosphate dehydrogenase (C) Epimerase (D) Transketolase
Description : Acute hemolytic anemia in person’s sensitive to the Fava beans is due to the deficiency of the enzyme: (A) Pyruvate dehydrogenase (B) G-6-PD (C) Aconitase (D) Transketolase
Description : 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
Description : 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
Description : Her’s disease is characterized by deficiency of (A) Muscle phosphorylase (B) Liver phosphorylase (C) Debranching enzyme (D) Glycogen synthase
Description : Dietary deficiency of thiamin inhibits the activity of the enzyme: (A) Pyruvate kinase (B) Pyruvate dehydrogenase (C) Phosphofructokinase (D) Enolase
Description : Farber’s disease is due to the deficiency of the enzyme: (A) α-Galactosidase (B) Ceramidase (C) β-Glucocerebrosidase (D) Arylsulphatase A.
Description : Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase
Description : Krabbe’s disease is due to the deficiency of the enzyme: (A) Ceramide lactosidase (B) Ceramidase (C) β-Galactosidase (D) GM1 β-Galactosidase
Description : Neimann-Pick disease is due to the deficiency of the enzyme: (A) Hexosaminidase A and B (B) Ceramidase (C) Ceramide lactosidase (D) Sphingomyelinase CHAPTER 6 CHAPTER 6 ENZYMES
Description : Gaucher’s disease is due to the deficiency of the enzyme: (A) α-Fucosidase (B) β-Galactosidase (C) β-Glucosidase (D) Sphingomyelinase
Description : Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase
Description : An inborn error, maple syrup urine disease is due to deficiency of the enzyme: (A) Isovaleryl-CoAhydrogenase (B) Phenylalnine hydroxylase (C) Adenosyl transferase (D) α-Ketoacid decarboxylase
Description : 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
Description : Metachromatic leukodystrophy is due to deficiency of enzyme: (A) α-Fucosidase (B) Arylsulphatase A (C) Ceramidase (D) Hexosaminidase A
Description : Gaucher’s disease is due to deficiency of the enzyme: (A) Sphingomyelinase (B) Glucocerebrosidase (C) Galactocerbrosidase (D) β-Galactosidase
Description : Which one of the following statements concerning glucose-6-phosphate dehydrogenase deficiency is correct? (A) Young R.B.Cs, particularly reticulocytes, contain the highest enzyme activity cells show less enzyme ... PD gene (D) G-6-PD deficiency is precipitated by ingestion of drugs such as aspirin
Description : The “Primaquin sensitivity types of haemolytic anaemia has been found to relate to reduced R.B.C activity of which enzyme? (A) Pyruvate kinase deficiency (B) Glucose-6-phosphatase deficiency (C) Glucose-6-p dehydrogenase deficiency (D) Hexokinase deficiency
Last Answer : C
Description : Which of the following enzyme defects is associated with a characteristic body odour? 1) Phenylalanine aminotransferase 2) Galactose0-phosphate-uridyltransferase 3) Ornithine transcarbamylase deficiency 4) Fumaryl acetoacetase 5) Branched chain ketoacid decarboxylase
Last Answer : Answers-5 The following inborn errors of amino acid metabolism are associated with abnormal odours: Glutaric acidaemia type II (sweaty feet), hawkinsinuria (swimming pool), isovaleric acidaemia (sweaty feet), ... The general rule is that if a child smells peculiar he requires a metabolic work-up.
Description : What is the most common enzyme deficiency in man?
Last Answer : Glucose-6-phosphate dehydrogenase deficiency.
Description : Renal ricket is caused by renal tubular defect (usually inherited) which interferes with reabsorption of (A) Calcium (B) Phosphorous (C) Sodium (D) Chloride
Description : All the following statements about retino blastoma are true except (A) At least two mutations are required for its development (B) One mutation can be inherited from a parent (C) Children ... mutation develop retinoblastoma at a younger age (D) RB 1 gene promotes the development of retinoblastoma
Description : All the following statements about restriction fragment length polymorphism are true except (A) It results from mutations in restriction sites (B) Mutations in restriction sites can occur in coding or non- ... It is inherited in Mendelian fashion (D) It can be used to diagnose any genetic disease
Description : All the following statements about cystic fibrosis are correct except (A) It is inherited as an autosomal recessive disease (B) It affects a number of exocrine glands (C) It causes increased sweating (D) Sweat chlorides are above 60 mEq/L in this disease
Description : Which of the following statements about Menke’s disease are true. (A) It is an inherited disorder of copper metabolism (B) It occurs only in males (C) Plasma copper is increased in it (D) Hair becomes steely and kinky in it
Description : An inherited or acquired renal tubular defect in the reabsorption of phosphate (Vit D resistant ricket) is characterized with (A) Normal serum Phosphate (B) High serum phosphate (C ... blood phosphorous with elevated alkaline Phosphate (D) A high blood phosphorous with decreased alkaline phosphatase
Description : Zellweger’s syndrome is due to inherited absence of (A) Peroxisomes (B) Phospholipase A1 (C) Acyl-Co-A dehydrogenase (D) Thiolase
Description : Which of the following is associated with Hyperuricaemia? 1) is usually due to an excess purine consumption 2) occurs in association with acute lymphoblastic leukaemia 3) in primary gout is inherited in ... with low dose aspirin therapy 5) can be treated with uricosuric drugs even in renal failure
Last Answer : Answers-2 Hyperuricaemia may be due to increased purine intake, urate production or reduced urate clearance, and is most commonly due to the latter. Therefore it can occur in association with enhanced ... . Many of the uricosuric drugs may be detrimental in renal failure and may not be effective.
Description : The first clinical gene therapy was given in 1990 to a 4 years old with enzyme deficiency of
Last Answer : The first clinical gene therapy was given in 1990 to a 4 years old with enzyme deficiency ... tyrosine oxidase C. monaine oxidase D. monamine oxidase
Description : The genetic defect-adenosine deaminase (ADA) deficiency may be cured permanently by (a) administering adenosine deaminase activators (b) introducing bone marrow cells producing ADA into ... replacement therapy (d) periodic infusion of genetically engineered lymphocytes having functional ADA cDNA
Last Answer : (b) introducing bone marrow cells producing ADA into cells at early embryonic stages
Description : Diabetes is due to (a) enzyme deficiency (b) iodine deficiency (c) Na+ deficiency (d) hormonal deficiency.
Last Answer : a) enzyme deficiency
Description : A specific BRCA1 cancer-predisposing gene mutation seems to occur more frequently among women of which descent? a) Ashkanazi Jewish Expression of the BRCA1 gene is an example of ... of treatment for tuberculosis) are at significantly increased risk for developing isoniazid-induced hepatitis.
Last Answer : a) Ashkanazi Jewish Expression of the BRCA1 gene is an example of inheritance in the development of breast cancer.
Description : Have you ever inherited an unfinished knitting or crochet project from someone who has passed away?
Last Answer : Related story. Before my grandmother died unexpectedly, she'd been working on a hooked rug as a baby shower present for no one in particular (just for the next child to come along). Flash forward many ... first child with a lovely note about how it was from her AND my grandmother. I cried buckets.