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

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
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Transfer of the carbamoyl moiety of carbamoyl phosphate to ornithine is catalysed by a liver mitochondrial enzyme: (A) Carbamoyl phosphate synthetase (B) Ornithine transcarbamoylase (C) N-acetyl glutamate synthetase (D) N-acetyl glutamate hydrolase

Description : Transfer of the carbamoyl moiety of carbamoyl phosphate to ornithine is catalysed by a liver mitochondrial enzyme: (A) Carbamoyl phosphate synthetase (B) Ornithine transcarbamoylase (C) N-acetyl glutamate synthetase (D) N-acetyl glutamate hydrolase

Last Answer : Answer : B

An enzyme of pyrimidine nucleotides biosynthesis regulated at the genetic level by apparently coordinate repression and derepression is (A) Carbamoyl phosphate synthetase (B) Dihydroorotate dehydrogenase (C) Thymidine kinase (D) Deoxycytidine kinase

Description : An enzyme of pyrimidine nucleotides biosynthesis regulated at the genetic level by apparently coordinate repression and derepression is (A) Carbamoyl phosphate synthetase (B) Dihydroorotate dehydrogenase (C) Thymidine kinase (D) Deoxycytidine kinase

Last Answer : Answer : A

Enzyme deficient in Hyperammonemia type II is (A) Glutamine synthetase (B) Glutaminase (C) Ornithine transcarbamoylase (D) Carbamoylphosphate synthetase

Description : Enzyme deficient in Hyperammonemia type II is (A) Glutamine synthetase (B) Glutaminase (C) Ornithine transcarbamoylase (D) Carbamoylphosphate synthetase

Last Answer : Answer : C

Hyperammonaemia type I results from congenital absence of (A) Glutamate dehydrogenase (B) Carbamoyl phosphate synthetase (C) Ornithine transcarbamoylase (D) None of these

Description : Hyperammonaemia type I results from congenital absence of (A) Glutamate dehydrogenase (B) Carbamoyl phosphate synthetase (C) Ornithine transcarbamoylase (D) None of these

Last Answer : Answer : B

Orotic aciduria type I reflects the deficiency of enzymes: (A) Orotate phosphoribosyl transferase and orotidylate decarboxylase (B) Dihydroorotate dehydrogenase (C) Dihydroorotase (D) Carbamoyl phosphate synthetase

Description : Orotic aciduria type I reflects the deficiency of enzymes: (A) Orotate phosphoribosyl transferase and orotidylate decarboxylase (B) Dihydroorotate dehydrogenase (C) Dihydroorotase (D) Carbamoyl phosphate synthetase

Last Answer : Answer : A

Cytosolic carbamoyl phosphate synthetase is activated by (A) Glutamine (B) PRPP (C) ATP (D) Aspartate

Description : Cytosolic carbamoyl phosphate synthetase is activated by (A) Glutamine (B) PRPP (C) ATP (D) Aspartate

Last Answer : Answer : B

Cytosolic carbamoyl phosphate synthetase is inhibited by (A) UTP (B) CTP (C) PRPP (D) TMP

Description : Cytosolic carbamoyl phosphate synthetase is inhibited by (A) UTP (B) CTP (C) PRPP (D) TMP

Last Answer : Answer : A

De novo synthesis of pyrimidine nucleotides is regulated by (A) Carbamoyl phosphate synthetase (B) Aspartate transcarbamoylase (C) Both (A) and (B) (D) None of these

Description : De novo synthesis of pyrimidine nucleotides is regulated by (A) Carbamoyl phosphate synthetase (B) Aspartate transcarbamoylase (C) Both (A) and (B) (D) None of these

Last Answer : Answer : C

All the enzymes required for de novo synthesis of pyrimidine nucleotides are cytosolic except (A) Carbamoyl phosphate synthetase (B) Aspartate transcarbamoylase (C) Dihydro-orotase (D) Dihydro-orotate dehydrogenase

Description : All the enzymes required for de novo synthesis of pyrimidine nucleotides are cytosolic except (A) Carbamoyl phosphate synthetase (B) Aspartate transcarbamoylase (C) Dihydro-orotase (D) Dihydro-orotate dehydrogenase

Last Answer : Answer : D

An enzyme common to de novo synthesis of pyrimidine nucleotides and urea is (A) Urease (B) Carbamoyl phosphate synthetase (C) Aspartate transcarbamoylase (D) Argininosuccinase

Description : An enzyme common to de novo synthesis of pyrimidine nucleotides and urea is (A) Urease (B) Carbamoyl phosphate synthetase (C) Aspartate transcarbamoylase (D) Argininosuccinase

Last Answer : Answer : B

Carbamoyl phosphate synthetase structure is marked by change in the presence of (A) N-Acetyl glutamate (B) N-Acetyl Aspartate (C) Neuraminic acid (D) Oxalate

Description : Carbamoyl phosphate synthetase structure is marked by change in the presence of (A) N-Acetyl glutamate (B) N-Acetyl Aspartate (C) Neuraminic acid (D) Oxalate

Last Answer : Answer : A

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

Description : 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

Last Answer : Answer : C

Control of urea cycle involves the enzyme: (A) Carbamoyl phosphate synthetase (B) Ornithine transcarbamoylase (C) Argininosuccinase (D) Arginase

Description : Control of urea cycle involves the enzyme: (A) Carbamoyl phosphate synthetase (B) Ornithine transcarbamoylase (C) Argininosuccinase (D) Arginase

Last Answer : Answer : A

The enzyme carbamoyl phosphate synthetase requires (A) Mg++ (B) Ca++ (C) Na+ (D) K+

Description : The enzyme carbamoyl phosphate synthetase requires (A) Mg++ (B) Ca++ (C) Na+ (D) K+

Last Answer : Answer : A

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

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

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

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 : 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

Last Answer : Answer : D

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

The highest energy level is present amongst the following in (A) 1, 3-Biphosphoglycerate (B) Creatine phosphate (C) Carbamoyl phosphate (D) Phosphoenol pyruvate

Description : The highest energy level is present amongst the following in (A) 1, 3-Biphosphoglycerate (B) Creatine phosphate (C) Carbamoyl phosphate (D) Phosphoenol pyruvate

Last Answer : Answer : D

Hepatocellular jaundice as compared to pure obstructive type of jaundice is characterized by (A) Increased serum alkaline phosphate, LDH and ALT (B) Decreased serum alkaline phosphatase, LDH and ALT (C) Increased serum alkaline phosphatase and decreased levels of LDH and ALT (D) Decreased serum alkaline phosphatase and increased serum LDH and ALT

Description : Hepatocellular jaundice as compared to pure obstructive type of jaundice is characterized by (A) Increased serum alkaline phosphate, LDH and ALT (B) Decreased serum alkaline phosphatase, LDH and ALT (C ... levels of LDH and ALT (D) Decreased serum alkaline phosphatase and increased serum LDH and ALT

Last Answer : Answer : D

A key substance in the committed step of pyrimidines biosynthesis is (A) Ribose-5-phosphate (B) Carbamoyl phosphate (C) ATP (D) Glutamine

Description : A key substance in the committed step of pyrimidines biosynthesis is (A) Ribose-5-phosphate (B) Carbamoyl phosphate (C) ATP (D) Glutamine

Last Answer : Answer : B

The two nitrogen of the pyrimidine ring are contributed by (A) Ammonia and glycine (B) Asparate and carbamoyl phosphate (C) Glutamine and ammonia (D) Aspartate and ammonia

Description : The two nitrogen of the pyrimidine ring are contributed by (A) Ammonia and glycine (B) Asparate and carbamoyl phosphate (C) Glutamine and ammonia (D) Aspartate and ammonia

Last Answer : Answer : B

Pyrimidine biosynthesis begins with the formation from glutamine, ATP and CO2, of (A) Carbamoyl aspartate (B) Orotate (C) Carbamoyl phosphate (D) Dihydroorotate

Description : Pyrimidine biosynthesis begins with the formation from glutamine, ATP and CO2, of (A) Carbamoyl aspartate (B) Orotate (C) Carbamoyl phosphate (D) Dihydroorotate

Last Answer : Answer : C

Which of the following contributes nitrogen atoms to both purine and pyrimidine rings? (A) Aspartate (B) Carbamoyl phosphate (C) CO2 (D) Glutamine

Description : Which of the following contributes nitrogen atoms to both purine and pyrimidine rings? (A) Aspartate (B) Carbamoyl phosphate (C) CO2 (D) Glutamine

Last Answer : Answer : A

The metabolite which sustains urea cycle is (A) Ornithine (B) Citrulline (C) Carbamoyl phosphate (D) n-acetyl glutamate

Description : The metabolite which sustains urea cycle is (A) Ornithine (B) Citrulline (C) Carbamoyl phosphate (D) n-acetyl glutamate

Last Answer : Answer : C

ATP is required in following reactions of urea cycle: (A) Synthesis of carbamoyl phosphate and citrulline (B) Synthesis of citrulline and argininosuccinate (C) Synthesis of argininosuccinate and arginine (D) Synthesis of carbamoyl phosphate and argininosuccinate

Description : ATP is required in following reactions of urea cycle: (A) Synthesis of carbamoyl phosphate and citrulline (B) Synthesis of citrulline and argininosuccinate (C) Synthesis of argininosuccinate and arginine (D) Synthesis of carbamoyl phosphate and argininosuccinate

Last Answer : Answer : C

Carbamoyl phosphate required for urea synthesis is formed in (A) Cytosol (B) Mitochondria (C) Both (A) and (B) (D) None of these

Description : Carbamoyl phosphate required for urea synthesis is formed in (A) Cytosol (B) Mitochondria (C) Both (A) and (B) (D) None of these

Last Answer : Answer : B

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

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

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

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

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.

All the following statements about obstructive jaundice are true except (A) Prothrombin time may be prolonged due to impaired absorption of vitamin K (B) Serum alkaline phosphatase may be raised due to increased release of the enzyme from liver cells (C) Bile salts may enter systemic circulation due to biliary obstruction (D) There is no defect in conjugation of bilirubin

Description : All the following statements about obstructive jaundice are true except (A) Prothrombin time may be prolonged due to impaired absorption of vitamin K (B) Serum alkaline phosphatase may be raised ... systemic circulation due to biliary obstruction (D) There is no defect in conjugation of bilirubin

Last Answer : Answer : B

CTP synthetase forms CTP from (A) CDP and inorganic phosphate (B) CDP and ATP (C) UTP and glutamine (D) UTP and glutamate

Description : CTP synthetase forms CTP from (A) CDP and inorganic phosphate (B) CDP and ATP (C) UTP and glutamine (D) UTP and glutamate

Last Answer : Answer : C

An enzyme which acts as allosteric regulator and sensitive to both phosphate concentration and to the purine nucleotides is (A) PRPP synthetase (B) PRPP glutamyl midotransferase (C) HGPR Tase (D) Formyl transferase

Description : An enzyme which acts as allosteric regulator and sensitive to both phosphate concentration and to the purine nucleotides is (A) PRPP synthetase (B) PRPP glutamyl midotransferase (C) HGPR Tase (D) Formyl transferase

Last Answer : Answer : A

The enzyme that converts glucose to glucose-6-phosphate is (A) Phosphatase (B) Hexokinase (C) Phosphorylase (D) Glucose synthetase

Description : The enzyme that converts glucose to glucose-6-phosphate is (A) Phosphatase (B) Hexokinase (C) Phosphorylase (D) Glucose synthetase

Last Answer : Answer : B

Pyridoxal phosphate is a coenzyme for (A) Glycogen synthetase (B) Phosphorylase (C) Both (A) and (B) (D) None of these

Description : Pyridoxal phosphate is a coenzyme for (A) Glycogen synthetase (B) Phosphorylase (C) Both (A) and (B) (D) None of these

Last Answer : Answer : B

All of the following occur in orotic aciduria except (A) Increased synthesis of pyrimidine nucleotides (B) Increased excretion of orotic acid in urine (C) Decreased synthesis of cytidine triphosphate (D) Retardation of growth

Description : All of the following occur in orotic aciduria except (A) Increased synthesis of pyrimidine nucleotides (B) Increased excretion of orotic acid in urine (C) Decreased synthesis of cytidine triphosphate (D) Retardation of growth

Last Answer : Answer : A

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.

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