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

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

Mammals other than higher primates do not suffer from gout because they (A) Lack xanthine oxidase (B) Lack adenosine deaminase (C) Lack purine nucleoside phosphorylase (D) Possess uricase

Description : Mammals other than higher primates do not suffer from gout because they (A) Lack xanthine oxidase (B) Lack adenosine deaminase (C) Lack purine nucleoside phosphorylase (D) Possess uricase

Last Answer : Answer : D

The enzyme common to catabolism of all the purines is (A) Adenosine deaminase (B) Purine nucleoside phosphorylase (C) Guanase (D) None of these

Description : The enzyme common to catabolism of all the purines is (A) Adenosine deaminase (B) Purine nucleoside phosphorylase (C) Guanase (D) None of these

Last Answer : Answer : B

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 an autosomal dominant manner 4) can be reduced with low dose aspirin therapy 5) can be treated with uricosuric drugs even in renal failure

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.

Complete absence of hypoxanthine guanine phospharibosyl transferase causes (A) Primary gout (B) Immunodeficiency (C) Uric acid stones (D) Lesh-Nyhan syndrome

Description : Complete absence of hypoxanthine guanine phospharibosyl transferase causes (A) Primary gout (B) Immunodeficiency (C) Uric acid stones (D) Lesh-Nyhan syndrome

Last Answer : Answer : D

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

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

All the following are true about phenylketonuria except (A) Deficiency of phenylalanine hydroxylase (B) Mental retardation (C) Increased urinary excretion of p-hydroxyphenyl pyruvic acid (D) Decrease serotonin formation

Description : All the following are true about phenylketonuria except (A) Deficiency of phenylalanine hydroxylase (B) Mental retardation (C) Increased urinary excretion of p-hydroxyphenyl pyruvic acid (D) Decrease serotonin formation

Last Answer : Answer : C

Pyrimidine and purine nucleoside biosynthesis share a common precursor: (A) PRPP (B) Glycine (C) Fumarate (D) Alanine

Description : Pyrimidine and purine nucleoside biosynthesis share a common precursor: (A) PRPP (B) Glycine (C) Fumarate (D) Alanine

Last Answer : Answer : A

A nucleoside consists of (A) Nitrogenous base (B) Purine or pyrimidine base + sugar (C) Purine or pyrimidine base + phosphorous (D) Purine + pyrimidine base + sugar + phosphorous

Description : A nucleoside consists of (A) Nitrogenous base (B) Purine or pyrimidine base + sugar (C) Purine or pyrimidine base + phosphorous (D) Purine + pyrimidine base + sugar + phosphorous

Last Answer : Answer : B

A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient and abnormal skin. This is the result of (a) cancer of the thyroid gland (b) oversecretion of pars distalis (c) deficiency of iodine in diet (d) low secretion of growth hormone

Description : A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient and abnormal skin. This is the result of (a) cancer of the thyroid gland (b) oversecretion of pars distalis (c) deficiency of iodine in diet (d) low secretion of growth hormone

Last Answer : (c) deficiency of iodine in diet

Which hormone deficiency causes dwarfism ?

Last Answer : Lack of growth hormone causes dwarfism.

A nucleoside is: (a) purine/pyramidine + phosphate (b) purine/pyramidine + sugar (c) Pyramidine + purine + phosphate (d) Purine + sugar + phosphate

Description : A nucleoside is: (a) purine/pyramidine + phosphate (b) purine/pyramidine + sugar (c) Pyramidine + purine + phosphate (d) Purine + sugar + phosphate

Last Answer : Ans. ((b))

Adenine is (a) purine (b) pyrimidine (c) nucleoside (d) nucleotide.

Description : Adenine is (a) purine (b) pyrimidine (c) nucleoside (d) nucleotide.

Last Answer : (a) purine

Uridine, present only in RNA is a (a) nucleoside (b) nucleotide (c) purine (d) pyrimidine.

Description : Uridine, present only in RNA is a (a) nucleoside (b) nucleotide (c) purine (d) pyrimidine.

Last Answer : a) nucleoside

Gout is a metabolic disorder of catabolism of (A) Pyrimidine (B) Purine (C) Alanine (D) Phenylalanine

Description : Gout is a metabolic disorder of catabolism of (A) Pyrimidine (B) Purine (C) Alanine (D) Phenylalanine

Last Answer : Answer : B

A 73 year old male presented with an acute attack of gout in his left knee. What is the most likely underlying metabolic cause? 1) decreased renal excretion of uric acid 2) endogenous overproduction of uric acid 3) excessive dietary purine intake 4) lactic acidosis 5) starvation

Description : A 73 year old male presented with an acute attack of gout in his left knee. What is the most likely underlying metabolic cause? 1) decreased renal excretion of uric acid 2) endogenous overproduction of uric acid 3) excessive dietary purine intake 4) lactic acidosis 5) starvation

Last Answer : Answers-1 The aetiology of gout can broadly be divided into cases where there is underexcretion of urate via the kidney (90%) or endogenous overproduction of uric acid (10%) although in practical ... diuretic use. Excessive dietary intake of purines is unlikely to be the main cause in this case.

Inborn errors of urea cycle can cause all the following except (A) Vomiting (B) Ataxia (C) Renal failure (D) Mental retardation

Description : Inborn errors of urea cycle can cause all the following except (A) Vomiting (B) Ataxia (C) Renal failure (D) Mental retardation

Last Answer : Answer : D

Mental retardation can occur in (A) Cretinism (B) Juvenile myxoedema (C) Myxoedema (D) Juvenile thyrotoxicosis

Description : Mental retardation can occur in (A) Cretinism (B) Juvenile myxoedema (C) Myxoedema (D) Juvenile thyrotoxicosis

Last Answer : Answer : A

An important finding in Hyperammonemia type II is (A) Increased serum gluatmine level (B) Enlarged liver (C) Mental retardation (D) Increased carbamoyl phosphate synthetase level

Description : An important finding in Hyperammonemia type II is (A) Increased serum gluatmine level (B) Enlarged liver (C) Mental retardation (D) Increased carbamoyl phosphate synthetase level

Last Answer : Answer : C

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

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

Clinical symptom in urea cycle disorder is (A) Mental retardation (B) Drowsiness (C) Diarrhoea (D) Oedema

Description : Clinical symptom in urea cycle disorder is (A) Mental retardation (B) Drowsiness (C) Diarrhoea (D) Oedema

Last Answer : Answer : A

Marasmus differs from Kwashiorkor in the which of these following respect (A) Mental retardation occurs in kwashiorkor but not in marasmus (B) Growth is retarded in kwashiorkor but not in marasmus (C) Muscle wasting occurs in marasmus but not kwashiorkor (D) Subcutaneous fat disappears in marasmus but not in kwashiorkor

Description : Marasmus differs from Kwashiorkor in the which of these following respect (A) Mental retardation occurs in kwashiorkor but not in marasmus (B) Growth is retarded in kwashiorkor but not in marasmus ... in marasmus but not kwashiorkor (D) Subcutaneous fat disappears in marasmus but not in kwashiorkor

Last Answer : Answer : D

Clinical features of Kwashiorkor include all of the following except (A) Mental retardation (B) Muscle wasting (C) Oedema (D) Anaemia

Description : Clinical features of Kwashiorkor include all of the following except (A) Mental retardation (B) Muscle wasting (C) Oedema (D) Anaemia

Last Answer : Answer : A

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

Description : 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

Last Answer : Answer : C

Congenital galactosaemia can lead to (A) Mental retardation (B) Premature cataract (C) Death (D) All of the above

Description : Congenital galactosaemia can lead to (A) Mental retardation (B) Premature cataract (C) Death (D) All of the above

Last Answer : D

Which of the following suggests a diagnosis of Hurler's Syndrome rather than Hunter's Syndrome? 1) X-linked inheritance 2) Mental retardation 3) Skeletal abnormalities 4) Cloudy cornea 5) Cardiomyopathy

Description : Which of the following suggests a diagnosis of Hurler's Syndrome rather than Hunter's Syndrome? 1) X-linked inheritance 2) Mental retardation 3) Skeletal abnormalities 4) Cloudy cornea 5) Cardiomyopathy

Last Answer : Answers-4 Hunter's Syndrome (MPS-2) is of X-linked inheritance. The cornea are clear. The skeletal involvement tends to be mild with no gibbous present, though scoliosis is ... and gibbous deformation of the spine is characteristic. There is the characteristic coarse facies with hepatosplenomegaly.

Which of the following is a recognised feature of abetalipoproteinaemia? 1) a high serum cholesterol 2) palmar xanthomas 3) advanced atherosclerotic vascular disease 4) abnormal red blood cell morphology 5) severe mental retardation

Description : Which of the following is a recognised feature of abetalipoproteinaemia? 1) a high serum cholesterol 2) palmar xanthomas 3) advanced atherosclerotic vascular disease 4) abnormal red blood cell morphology 5) severe mental retardation

Last Answer : Answers-4 Acanthocytes are seen in abetalipoproteinaemia. Retinitis pigmentosa is seen in abetalipoproteinaemia. Mental retardation is not present but motor abnormalities and neurodegenerative are seen.

In which of the following is mental retardation an expected finding? 1) Alkaptonuria 2) Cystinuria 3) Glycogen storage disease 4) Lactose intolerance 5) Maple syrup urine disease

Description : In which of the following is mental retardation an expected finding? 1) Alkaptonuria 2) Cystinuria 3) Glycogen storage disease 4) Lactose intolerance 5) Maple syrup urine disease

Last Answer : Answers-5 MENTAL RETARDATION. Fragile X syndrome-commonest male cause. Hypoxia at birth, intaventricular haemorrhage, rhesus disease, Congenital infections - toxoplasmosis, CMV, rubella ... with diet. -homocystinuria, phenylketonuria -maple syrup urine disease, tryptophanuria -galactosaemia

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

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

Von Gierke’s disease is characterized by the deficiency of (A) Glucose-6-phosphatase (B) α -1→ 4 Glucosidase (C) 1→ 6 Glucosidase (D) Liver phosphorylase

Description : Von Gierke’s disease is characterized by the deficiency of (A) Glucose-6-phosphatase (B) α -1→ 4 Glucosidase (C) 1→ 6 Glucosidase (D) Liver phosphorylase

Last Answer : Answer : A

McArdle’s disease is due to the deficiency of (A) Glucose-6-phosphatase (B) Phosphofructokinase (C) Liver phosphorylase (D) muscle phosphorylase

Description : McArdle’s disease is due to the deficiency of (A) Glucose-6-phosphatase (B) Phosphofructokinase (C) Liver phosphorylase (D) muscle phosphorylase

Last Answer : D

Decreased secretion of growth hormone during childhood causes (A) Simmond’s disease (B) Cushing’s disease (C) Dwarfism (D) Cretinism

Description : Decreased secretion of growth hormone during childhood causes (A) Simmond’s disease (B) Cushing’s disease (C) Dwarfism (D) Cretinism

Last Answer : Answer : C

61. A client with gout asks the nurse what food must be avoided so that the family can provide support. Which food has the highest in purine content and must be excluded from the dietary plan?

Description : 61. A client with gout asks the nurse what food must be avoided so that the family can provide support. Which food has the highest in purine content and must be excluded from the dietary plan?

Last Answer : D. Liver

Stunned growth of child during pregnancy mental retardation, low intelligence quiotient is due to

Description : Stunned growth of child during pregnancy mental retardation, low intelligence quiotient is due to

Last Answer : Stunned growth of child during pregnancy mental retardation, low intelligence quiotient is due to

A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient, and abnormal skin. This is the resul

Description : A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient, and abnormal skin. This is the resul

Last Answer : A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence ... distalis D. Deficiency of idodine in diet.

Mental retardation in man, associated with sex chromosomal abnormality is usually due to (a) moderate increase in Y complement (b) large increase in Y complement (c) reduction in X complement (d) increase in X complement.

Description : Mental retardation in man, associated with sex chromosomal abnormality is usually due to (a) moderate increase in Y complement (b) large increase in Y complement (c) reduction in X complement (d) increase in X complement.

Last Answer : (d) increase in X complement.

Riboflavin deficiency causes (A) Cheilosis (B) Loss of weight (C) Mental deterioration (D) Dermatitis

Description : Riboflavin deficiency causes (A) Cheilosis (B) Loss of weight (C) Mental deterioration (D) Dermatitis

Last Answer : Answer : A

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

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

Which enzyme deficiency is inherited as Xlinked?

Description : Which enzyme deficiency is inherited as Xlinked?

Last Answer : Glucose-6-phosphate-dehydrogenase.

Which one of the following causes frame shift mutation? (A) Transition (B) Transversion (C) Deletion (D) Substitution of purine to pyrimidine

Description : Which one of the following causes frame shift mutation? (A) Transition (B) Transversion (C) Deletion (D) Substitution of purine to pyrimidine

Last Answer : Answer : C

Which one of the following causes frame shift mutation? (A) Transition (B) Transversion (C) Deletion (D) Substitution of purine to pyrimidine

Description : Which one of the following causes frame shift mutation? (A) Transition (B) Transversion (C) Deletion (D) Substitution of purine to pyrimidine

Last Answer : Answer : C

Human immunodeficiency virus destroys (A) Cytotoxic T cells (B) Helper T cells (C) B cells (D) Plasma cells

Description : Human immunodeficiency virus destroys (A) Cytotoxic T cells (B) Helper T cells (C) B cells (D) Plasma cells

Last Answer : Answer : B

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

The correct statement concerning RNA and DNA polymerases is (A) RNA polymerase use nucleoside diphosphates (B) RNA polymerase require primers and add bases at 5’ end of the growing polynucleotide chain (C) DNA polymerases can add nucleotides at both ends of the chain (D) All RNA and DNA polymerases can add nucleotides only at the 3’ end of the growing polynucleotide chain

Description : The correct statement concerning RNA and DNA polymerases is (A) RNA polymerase use nucleoside diphosphates (B) RNA polymerase require primers and add bases at 5' end of the growing polynucleotide ... and DNA polymerases can add nucleotides only at the 3' end of the growing polynucleotide chain

Last Answer : Answer : D