Tay-Sachs disease results from inherited deficiency of (A) Arylsulphatase A (B) Hexosaminidase A (C) Sphingomyelinase (D) Ceramidase

Tay-Sachs disease results from inherited deficiency of (A) Arylsulphatase A (B) Hexosaminidase A (C) Sphingomyelinase (D) Ceramidase
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Niemann-Pick disease results from deficiency of (A) Ceramidase (B) Sphingomyelinase (C) Arylsulphatase A (D) Hexosaminidase A

Description : Niemann-Pick disease results from deficiency of (A) Ceramidase (B) Sphingomyelinase (C) Arylsulphatase A (D) Hexosaminidase A

Last Answer : Answer : B

The enzyme deficient in metachromatic leukodystrophy is (A) Arylsulphatase A (B) Hexosaminidase A (C) Ceramidase (D) Sphingomyelinase

Description : The enzyme deficient in metachromatic leukodystrophy is (A) Arylsulphatase A (B) Hexosaminidase A (C) Ceramidase (D) Sphingomyelinase

Last Answer : Answer : A

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 : 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

Last Answer : Answer : D

Gaucher's Disease is associated with the deficiency of : 1) Hexosaminidase A 2) Sphingomyelinase 3) Arylsulphatase-A 4) B- Glucosidase 5) Iduronidase

Description : Gaucher's Disease is associated with the deficiency of : 1) Hexosaminidase A 2) Sphingomyelinase 3) Arylsulphatase-A 4) B- Glucosidase 5) Iduronidase

Last Answer : Answers-4 Hexosaminidase A deficiency is associated Tay-Sachs disease. Sphingomyelinase deficiency is associated with Niemann-Pick disease. Arylsulphatase-A deficiency is associated with metachromic leucodystrophy.Iduronidase deficiency is associated with Hurlers syndrome.

Metachromatic leukodystrophy is due to deficiency of enzyme: (A) α-Fucosidase (B) Arylsulphatase A (C) Ceramidase (D) Hexosaminidase A

Description : Metachromatic leukodystrophy is due to deficiency of enzyme: (A) α-Fucosidase (B) Arylsulphatase A (C) Ceramidase (D) Hexosaminidase A

Last Answer : Answer : B

Inherited deficiency of enzyme cerebrosidase produces (A) Fabry’s disease (B) Niemann pick disease (C) Gaucher’s disease (D) Tay-sach’s disease

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

Inherited deficiency of β−glucosidase causes (A) Tay-Sachs disease (B) Metachromatic leukodystrophy (C) Gaucher’s disease (D) Multiple sclerosis

Description : Inherited deficiency of β−glucosidase causes (A) Tay-Sachs disease (B) Metachromatic leukodystrophy (C) Gaucher’s disease (D) Multiple sclerosis

Last Answer : Answer : C

Ceramidase is deficient in (A) Fabry’s disease (B) Farber’s disease (C) Krabbe’s disease (D) Tay-Sachs disease

Description : Ceramidase is deficient in (A) Fabry’s disease (B) Farber’s disease (C) Krabbe’s disease (D) Tay-Sachs disease

Last Answer : Answer : B

Hexosaminidase A is deficient in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) Fabry’s disease

Description : Hexosaminidase A is deficient in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) Fabry’s disease

Last Answer : Answer : A

Niemann-Pick disease is due to deficiency of the enzyme (A) Ceramidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Sphingomyelinase

Description : Niemann-Pick disease is due to deficiency of the enzyme (A) Ceramidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Sphingomyelinase

Last Answer : Answer : D

Farber’s disease is due to the deficiency of the enzyme: (A) α-Galactosidase (B) Ceramidase (C) β-Glucocerebrosidase (D) Arylsulphatase A.

Description : Farber’s disease is due to the deficiency of the enzyme: (A) α-Galactosidase (B) Ceramidase (C) β-Glucocerebrosidase (D) Arylsulphatase A.

Last Answer : Answer : B

Wolman’s disease is due to deficiency of (A) Cholesteryl ester hydrolase (B) Hexosaminidase A (C) α-Fucosidase (D) Arylsulphatase A

Description : Wolman’s disease is due to deficiency of (A) Cholesteryl ester hydrolase (B) Hexosaminidase A (C) α-Fucosidase (D) Arylsulphatase A

Last Answer : Answer : A

Hunter’s syndrome results from absence of (A) Hexosaminidase A (B) Iduronate sulphatase (C) Neuraminidase (D) Arylsulphatase B

Description : Hunter’s syndrome results from absence of (A) Hexosaminidase A (B) Iduronate sulphatase (C) Neuraminidase (D) Arylsulphatase B

Last Answer : Answer : B

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

Description : 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

Last Answer : Answer : B

α-Galactosidase enzyme is defective in (A) Tay-sach’s disease (B) Refsum’s disease (C) Sandhoff’s disease (D) Fabry’s disease

Description : α-Galactosidase enzyme is defective in (A) Tay-sach’s disease (B) Refsum’s disease (C) Sandhoff’s disease (D) Fabry’s disease

Last Answer : Answer : D

Mental retardation occurs in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) All of these

Description : Mental retardation occurs in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) All of these

Last Answer : Answer : D

What is the underlying cause of Tay-Sachs disease is?

Description : What is the underlying cause of Tay-Sachs disease is?

Last Answer : Tay-Sachs disease is a hereditary illness. The body does notmake a molecule that is required to break down fatty substances inthe body, called gangliosides. The gangliosides collect in thenervous tissue, resulting in damage to the brain and nerves.

Tay-Sachs disease?

Description : Tay-Sachs disease?

Last Answer : DefinitionTay-Sachs disease is a deadly disease of the nervous system passed down through families.Causes, incidence, and risk factorsTay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break ... to the child, the child is called a carrier. He or she won't be sick, b

Tay Sach’s disease is because of (A) Accumulation of proteins (B) Accumulation of glycogen (C) Accumulation of lipids (D) Accumulation of vitamins

Description : Tay Sach’s disease is because of (A) Accumulation of proteins (B) Accumulation of glycogen (C) Accumulation of lipids (D) Accumulation of vitamins

Last Answer : (C) Accumulation of lipids

Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase

Description : Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase

Last Answer : Answer : A

Gaucher’s disease is due to the deficiency of the enzyme: (A) α-Fucosidase (B) β-Galactosidase (C) β-Glucosidase (D) Sphingomyelinase

Description : Gaucher’s disease is due to the deficiency of the enzyme: (A) α-Fucosidase (B) β-Galactosidase (C) β-Glucosidase (D) Sphingomyelinase

Last Answer : Answer : C

Gaucher’s disease is due to deficiency of the enzyme: (A) Sphingomyelinase (B) Glucocerebrosidase (C) Galactocerbrosidase (D) β-Galactosidase

Description : Gaucher’s disease is due to deficiency of the enzyme: (A) Sphingomyelinase (B) Glucocerebrosidase (C) Galactocerbrosidase (D) β-Galactosidase

Last Answer : Answer : B

Krabbe’s disease is due to the deficiency of the enzyme: (A) Ceramide lactosidase (B) Ceramidase (C) β-Galactosidase (D) GM1 β-Galactosidase

Description : Krabbe’s disease is due to the deficiency of the enzyme: (A) Ceramide lactosidase (B) Ceramidase (C) β-Galactosidase (D) GM1 β-Galactosidase

Last Answer : Answer : C

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) Autoimmune hemolytic anemia Autoimmune hemolytic anemia is an acquired anemia. c) Cold agglutinin disease Cold agglutinin disease is an acquired anemia. d) Hypersplenism Hypersplenism results in an acquired hemolytic anemia.

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.

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-coding regions of DNA (C) It is inherited in Mendelian fashion (D) It can be used to diagnose any genetic disease

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

Last Answer : Answer : D

The enzyme ceramidase is deficient in (A) Farber’s disease (B) Fabry’s disease (C) Sandhoff’s disease(D) Refsum’s disease

Description : The enzyme ceramidase is deficient in (A) Farber’s disease (B) Fabry’s disease (C) Sandhoff’s disease(D) Refsum’s disease

Last Answer : Answer : A

The enzyme deficient in Sandhoff’s disease is (A) α-Fucosidase (B) Hexosaminidase A and B (C) β-Galactosidase (D) β-Glucosidase

Description : The enzyme deficient in Sandhoff’s disease is (A) α-Fucosidase (B) Hexosaminidase A and B (C) β-Galactosidase (D) β-Glucosidase

Last Answer : Answer : B

The enzyme deficient in Krabbe’s disease is (A) Hexosaminidase A(B) Arylsuphatase A (C) β-Galactosidase (D) α-Fucosidase

Description : The enzyme deficient in Krabbe’s disease is (A) Hexosaminidase A(B) Arylsuphatase A (C) β-Galactosidase (D) α-Fucosidase

Last Answer : Answer : C

Nondisjunction of a chromosome results in which of the following diagnoses? a) Down Syndrome When a pair of chromosomes fails to separate completely and creates a sperm or oocyte that contains two copies of a particular chromosome (nondisjunction) Down syndrome results from three number 21 chromosomes. b) Huntingon Disease Huntington disease is one example of a germ-line mutation. c) Duchenne Muscular Dystrophy Duchenne muscular dystrophy, an inherited form of muscular dystrophy, is an example of a genetic caused by structural gene mutations. d) Marphan Syndrome Marphan Syndrome is a genetic condition that may occur in a single family member as a result of spontaneous mutation.

Description : Nondisjunction of a chromosome results in which of the following diagnoses? a) Down Syndrome When a pair of chromosomes fails to separate completely and creates a sperm or oocyte that contains two ... genetic condition that may occur in a single family member as a result of spontaneous mutation.

Last Answer : a) Down Syndrome When a pair of chromosomes fails to separate completely and creates a sperm or oocyte that contains two copies of a particular chromosome (nondisjunction) Down syndrome results from three number 21 chromosomes.

Inherited deficiency of purine nucleoside phosphorylase causes (A) Dwarfism (B) Mental retardation (C) Immunodeficiency (D) Gout

Description : Inherited deficiency of purine nucleoside phosphorylase causes (A) Dwarfism (B) Mental retardation (C) Immunodeficiency (D) Gout

Last Answer : Answer : C

Inherited deficiency of adenosine deaminase causes (A) Hyperuricaemia and gout (B) Mental retardation (C) Immunodeficiency (D) Dwarfism

Description : Inherited deficiency of adenosine deaminase causes (A) Hyperuricaemia and gout (B) Mental retardation (C) Immunodeficiency (D) Dwarfism

Last Answer : Answer : C

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

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

Which enzyme deficiency is inherited as Xlinked?

Description : Which enzyme deficiency is inherited as Xlinked?

Last Answer : Glucose-6-phosphate-dehydrogenase.

Defective enzyme in Hurler’s syndrome is (A) α-L-diuronidase (B) Iduronate sulphatase (C) Arylsulphatase B (D) C-acetyl transferase

Description : Defective enzyme in Hurler’s syndrome is (A) α-L-diuronidase (B) Iduronate sulphatase (C) Arylsulphatase B (D) C-acetyl transferase

Last Answer : Answer : A

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

Description : 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

Last Answer : Answer : D

Defective enzyme in Hunter’s syndrome is (A) α-L-iduronidase (B) Iduronate sulphatase (C) Arylsulphatase B (D) C-acetyl transferase

Description : Defective enzyme in Hunter’s syndrome is (A) α-L-iduronidase (B) Iduronate sulphatase (C) Arylsulphatase B (D) C-acetyl transferase

Last Answer : Answer : B

Maple syrup urine disease results from absence or serve deficiency of (A) Homogentisate oxidase (B) Phenylalanine hydroxylase (C) Branched chain amino acid transaminase (D) None of these

Description : Maple syrup urine disease results from absence or serve deficiency of (A) Homogentisate oxidase (B) Phenylalanine hydroxylase (C) Branched chain amino acid transaminase (D) None of these

Last Answer : Answer : D

Sjogren’s syndrome is a chronic disease characterized by which of the following clinical feature: Options: 1) Esophageal dysmotility 2) Keratoconjunctivitis sicca 3) Widespread damage to small blood vessels 4) Libmann Sachs Endocardititis

Description : Sjogren’s syndrome is a chronic disease characterized by which of the following clinical feature: Options: 1) Esophageal dysmotility 2) Keratoconjunctivitis sicca 3) Widespread damage to small blood vessels 4) Libmann Sachs Endocardititis

Last Answer : Correct Answer: 2) Keratoconjunctivitis sicca

tRNA has (A) Clover leaf structure (B) anticodon arm (C) poly ‘A’ tay 3’ (D) Cap at 5’ end

Description : tRNA has (A) Clover leaf structure (B) anticodon arm (C) poly ‘A’ tay 3’ (D) Cap at 5’ end

Last Answer : Answer : A

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 : 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

Last Answer : Answer : C

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 : 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

Last Answer : Answer : C

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 bleeding disorders present in all patients c. Laboratory tests reveal a prolongation of aPTT, prothrombin time (PT), thrombin clotting time and platelet aggregation d. Spontaneous bleeding is unusual with factor VIII levels greater than 10% of normal

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

Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern? a) Automosomal dominant inheritance An individual who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome of a pair. b) Automosomal recessive inheritance The pattern of inheritance in autosomal recessive inherited conditions is different from that of autosomal dominant inherited conditions in that it is more horizontal than vertical, with relatives of a single generation tending to have the condition. c) X-linked inheritance X-linked conditions may be inherited in families in recessive or dominant patterns.

Description : Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern? a) Automosomal dominant inheritance An individual who has an autosomal dominant ... that combine during early embryonic development leading to incomplete closure of the neural tube.

Last Answer : a) Automosomal dominant inheritance An individual who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome of a pair.

Characteristics of Vitamin D and its metabolites include which one of the following? (a) Act to decrease serum levels of calcium (b) Activation of their Vitamin D receptors increases cellular CAMP (c) Calcitriol is the major derivative responsible for increasing intestinal absorption of phosphate (d) Metabolites of Vitamin D increase renal excretion of calcium (e) Vitamin D deficiency results in Pager’s disease

Description : Characteristics of Vitamin D and its metabolites include which one of the following? (a) Act to decrease serum levels of calcium (b) Activation of their Vitamin D receptors increases cellular CAMP ... Vitamin D increase renal excretion of calcium (e) Vitamin D deficiency results in Pager's disease

Last Answer : Ans: C

Are you ready to Par-tay for our newest 20Ker?

Description : Are you ready to Par-tay for our newest 20Ker?

Last Answer : Whoaaaaaaa! Happy 20k day! That sure is a big accomplishment and you are one of the best around. :)

Deficiency of insulin results in (A) Rapid uptake of sugar (B) Low blood glucose level (C) Decrease urine output (D) Presence of glucose in urine

Description : Deficiency of insulin results in (A) Rapid uptake of sugar (B) Low blood glucose level (C) Decrease urine output (D) Presence of glucose in urine

Last Answer : Answer : D

Kwashiorkor results from (A) Vitamin A deficiency (B) Vitamin D deficiency (C) Deficiency of minerals in diet (D) Protein and caloric deficiency in diet

Description : Kwashiorkor results from (A) Vitamin A deficiency (B) Vitamin D deficiency (C) Deficiency of minerals in diet (D) Protein and caloric deficiency in diet

Last Answer : Answer : D

All of the following statements about generalized gangliosidosis are true except (A) It results from deficiency of GM1-βGangliosidase (B) Breakdown of GM1 ganglioside is impaired (C) GM2 ganglioside accumulates in liver and elsewhere (D) It leads to mental retardation

Description : All of the following statements about generalized gangliosidosis are true except (A) It results from deficiency of GM1-βGangliosidase (B) Breakdown of GM1 ganglioside is impaired (C) GM2 ganglioside accumulates in liver and elsewhere (D) It leads to mental retardation

Last Answer : Answer : C

A dietary deficiency in both the quantity and the quality of protein results in (A) Kwashiorkar (B) Marasmus (C) Xerophtalmia (D) Liver diseases

Description : A dietary deficiency in both the quantity and the quality of protein results in (A) Kwashiorkar (B) Marasmus (C) Xerophtalmia (D) Liver diseases

Last Answer : Answer : A

Deficiency of urea cycle enzymes results into accumulation of citrulline argininosuccinate arginine in the liver resulting in increasing concentration of …….. in the blood. (A) Calcium (B) Sodium (C) Ammonia (D) Lipid

Description : Deficiency of urea cycle enzymes results into accumulation of citrulline argininosuccinate arginine in the liver resulting in increasing concentration of …….. in the blood. (A) Calcium (B) Sodium (C) Ammonia (D) Lipid

Last Answer : Answer : C