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

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

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

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

The concentration of sphingomyelins are increased in (A) Gaucher’s disease (B) Fabry’s disease (C) Fabrile disease (D) Niemann-Pick disease

Description : The concentration of sphingomyelins are increased in (A) Gaucher’s disease (B) Fabry’s disease (C) Fabrile disease (D) Niemann-Pick disease

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

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

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

Last Answer : Answer : B

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

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

β -Galactosidase is deficient in (A) Fabry’s disease (B) Krabbe’s disease (C) Gaucher’s disease (D) Metachromatic leukodystrophy

Description : β -Galactosidase is deficient in (A) Fabry’s disease (B) Krabbe’s disease (C) Gaucher’s disease (D) Metachromatic leukodystrophy

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

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

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

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

Protein deficiency disease is known as (A) Cushing’s disease (B) Fabry’s disease (C) Parkinson’s disease (D) Kwashiorkor and marasmus

Description : Protein deficiency disease is known as (A) Cushing’s disease (B) Fabry’s disease (C) Parkinson’s disease (D) Kwashiorkor and marasmus

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.

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 Fabry’s disease is (A) α-Galactosidase (B) β-Galactosidase (C) α-Glucosidase (D) β-Glucosidase

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

Last Answer : Answer : A

Which enzyme deficiency is inherited as Xlinked?

Description : Which enzyme deficiency is inherited as Xlinked?

Last Answer : Glucose-6-phosphate-dehydrogenase.

Niemann-Pick disease?

Description : Niemann-Pick disease?

Last Answer : DefinitionNiemann-Pick disease refers to a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.There ... cells in the body lack an enzymecalled acid sphingomyelinase (ASM). ASM helps break down (me

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

Serum ferroxidase level decreases in (A) Gaucher’s disease (B) Cirrhosis of liver (C) Acute pancreatitis (D) Wilson’s disease ENZYMES 143

Description : Serum ferroxidase level decreases in (A) Gaucher’s disease (B) Cirrhosis of liver (C) Acute pancreatitis (D) Wilson’s disease ENZYMES 143

Last Answer : Answer : D

Serum lipase level increases in (A) Paget’s disease (B) Gaucher’s disease (C) Acute pancreatitis (D) Diabetes mellitus

Description : Serum lipase level increases in (A) Paget’s disease (B) Gaucher’s disease (C) Acute pancreatitis (D) Diabetes mellitus

Last Answer : Answer : C

An important finding of Fabry’s disease is (A) Skin rash (B) Exophthalmos (C) Hemolytic anemia (D) Mental retardation

Description : An important finding of Fabry’s disease is (A) Skin rash (B) Exophthalmos (C) Hemolytic anemia (D) Mental retardation

Last Answer : Answer : A

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 : 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

Last Answer : Answer : B

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.

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

Refsum’s disease is due to deficiency of the enzyme: (A) Pytantate-α-oxidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Ceramide trihexosidase

Description : Refsum’s disease is due to deficiency of the enzyme: (A) Pytantate-α-oxidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Ceramide trihexosidase

Last Answer : Answer : A

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 : 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

Last Answer : Answer : C

Her’s disease is characterized by deficiency of (A) Muscle phosphorylase (B) Liver phosphorylase (C) Debranching enzyme (D) Glycogen synthase

Description : Her’s disease is characterized by deficiency of (A) Muscle phosphorylase (B) Liver phosphorylase (C) Debranching enzyme (D) Glycogen synthase

Last Answer : Answer : B

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

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

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 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

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 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

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

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. :)

Orotic aciduria type II reflects the deficiency of the enzyme: (A) Orotate phosphoribosyl transferase (B) Orotidylate decarboxylase (C) Dihydroorotase (D) Dihydroorotate dehydrogenase

Description : Orotic aciduria type II reflects the deficiency of the enzyme: (A) Orotate phosphoribosyl transferase (B) Orotidylate decarboxylase (C) Dihydroorotase (D) Dihydroorotate dehydrogenase

Last Answer : Answer : B

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 : 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

Last Answer : Answer : B

The deficiency of copper decreases the activity of the enzyme: (A) Lysine oxidase (B) Lysine hydroxylase (C) Tyrosine oxidase (D) Proline hydroxylase

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

Neonatal tyrosinemia is due to deficiency of the enzyme: (A) p-Hydroxyphenylpyruvate hydroxylase (B) Fumarylacetoacetate hydrolase (C) Phenylalanine hydroxylase (D) Tyrosine dehydrogenase

Description : Neonatal tyrosinemia is due to deficiency of the enzyme: (A) p-Hydroxyphenylpyruvate hydroxylase (B) Fumarylacetoacetate hydrolase (C) Phenylalanine hydroxylase (D) Tyrosine dehydrogenase

Last Answer : Answer : B

Albinism is due to deficiency of the enzyme: (A) Phenylalanine hydroxylase (B) Tyrosinase (C) p-Hydroxyphenylpyruvic acid oxidase (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

Last Answer : Answer : C