Description : All the following statements about phenylketonuria are correct except (A) Phenylalanine cannot be converted into tyrosine (B) Urinary excretion of phenylpyruvate and phenyllactate is increased (C) It ... diet (D) It leads to decreased synthesis of thyroid hormones, catecholamines and melanin
Last Answer : Answer : D
Description : A biochemical indication of vitamin B12 deficiency can be obtained by measuring the urinary excretion of (A) Pyruvic acid (B) Malic acid (C) Methyl malonic acid (D) Urocanic acid
Last Answer : Answer : C
Description : Pyridoxine deficiency can be diagnosed by measuring urinary excretion of (A) Pyruvic acid (B) Oxaloacetic acid (C) Xanthurenic acid (D) None of these VITAMINS 119
Description : Absence of phenylalanine hydroxylase causes (A) Neonatal tyrosinemia (B) Phenylketonuria (C) Primary hyperoxaluria (D) Albinism
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
Description : Albinism is due to deficiency of the enzyme: (A) Phenylalanine hydroxylase (B) Tyrosinase (C) p-Hydroxyphenylpyruvic acid oxidase (D) Tyrosine dehydrogenase
Description : Pyridoxine deficiency can be diagnosed by measuring urinary excretion of (A) Pyruvic acid (B) Oxaloacetic acid (C) Xanthurenic acid (D) None of these
Last Answer : (C) Xanthurenic acid
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
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
Description : A characteristic of pheochromocytoma is elevated urinary excretion of (A) Dopamine (B) Tyrosine (C) Vinylmandelic acid (D) Phenylalanine
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
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
Description : Increased urinary excretion of orotic acid can occur in deficiency of (A) Orotate phosphoribosyl transferase (B) OMP decarboxylase (C) Mitochondrial ornithine transcarbamoylase (D) Any of the above
Description : Folic acid deficiency can be diagnosed by increased urinary excretion of (A) Methylmalonate (B) Figlu (C) Cystathionine (D) Creatinine
Description : Increased urinary indole acetic acid is diagnostic of (A) Maple syrup urine disease (B) Hartnup disease (C) Homocystinuia (D) Phenylketonuria
Description : Hydroxylation of phenylalanine requires all of the following except (A) Phenylalanine hydroxylase (B) Tetrahydrobiopterin (C) NADH (D) Molecular oxygen
Description : All of the following statements about allopurinol are true except (A) It is a structural analogue of uric acid (B) It can prevent uric acid stones in the kidneys (C) It increases the urinary excretion of xanthine and hypoxanthine (D) It is a competitive inhibitor of xanthine oxidase
Description : All of the following statements about primary gout are true except (A) Uric acid stones may be formed in kidneys (B) Arthritis of small joints occurs commonly (C) Urinary excretion of uric acid is decreased (D) It occurs predominantly in males
Description : Laboratory diagnosis of vitamin B12 deficiency can be made by measuring the urinary excretion of (A) Xanthurenic acid (B) Formiminoglutamic acid (C) Methylmalonic acid (D) Homogentisic acid
Description : Pyridoxine deficiency can be diagnosed by measuring the urinary excretion of xanthurenic acid following a test dose of (A) Glycine (B) Histidine (C) Tryptophan (D) Pyridoxine
Description : Tyrosine hydroxylase is inhibited by (A) Catecholamines (B) α−Methyldopa (C) Phenylalanine (D) Vanillyl mandelic acid
Description : The biosynthesis of both Catecholamine and serotonin require (A) Tyrosine hydroxylase (B) N-methyl transferase (C) Aromatic amino acid decarboxylase (D) Tryptophan pyrrolase
Description : Urinary excretion of vanillyl madelic acid is increased in (A) Phaeochromocytoma (B) Cushing’s syndrome (C) Carcinoid syndrome (D) Aldosteronism
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 : 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 : Concentration of pyruvic acid and lactic acid in blood is increased due to deficiency of the vitamin (A) Thiamin (B) Riboflavin (C) Niacin (D) Pantothenic acid
Description : Inborn errors of urea cycle can cause all the following except (A) Vomiting (B) Ataxia (C) Renal failure (D) Mental retardation
Description : Clinical features of Kwashiorkor include all of the following except (A) Mental retardation (B) Muscle wasting (C) Oedema (D) Anaemia
Description : Vitamin B12 deficiency can be diagnosed by urinary excretion of (A) Pyruvate (B) Methylmalonate (C) Malate (D) Lactate
Description : The rate limiting step in catecholamine synthesis is catalysed by (A) Phenylalanine hydroxylase (B) Tyrosine hydroxylase (C) Dopa decarboxylase (D) Phenylethanolamine N-methyl transferase
Description : For Catecholamine biosynthesis the rate limiting enzyme is (A) DOPA decarboxylase (B) DOPAMINE β-hydroxylase (C) Tyrosine hydroxylase (D) Phenylalanine hydroxylase
Description : Richner-Hanhart syndrome is due to defect in (A) Tyrosinase (B) Phenylalanine hydroxylase (C) Hepatic tyrosine transaminase (D) Fumarylacetoacetate hydrolase
Description : Serotonin is synthesised from (A) Serine (B) Phenylalanine (C) Tyrosine (D) Tryptophan
Description : Pentosuria is a rare hereditary disease is characterized by increased urinary excretion of (A) L-xylulose (B) Xylitol (C) Xylulose 5-phosphate (D) Ribose 5-phosphate
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 : In case of wilson’s disease, the features include all of the following except (A) Progressive hepatic cirrhosis (B) Keyser Fleisher ring (C) Aminoaciduria (D) Urinary excretion of Cu is decreased
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
Description : Which of the following statements regarding hypercalcemia are true? A. The symptoms of hypercalcemia may mimic some symptoms of hyperglycemia. B. Metastatic breast cancer is an unusual cause of ... fluid volume deficit. E. Urinary calcium excretion may be increased by vigorous volume repletion.
Last Answer : Answer: ADE DISCUSSION: Markedly elevated serum calcium levels produce polydipsia, polyuria, and thirst. Vigorous volume repletion and saline diuresis correct the extracellular fluid volume ... , from bony metastasis. The calcitonin effect on calcium is diminished with repeat administrations
Description : Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase
Last Answer : (A) Thiamin
Description : All the following statements about serotonin are true except (A) It causes vasolidatation (B) It causes bronchoconstriction (C) It is metabolized by monoamine oxidase (D) Its metabolite is 5-hydroxyindole acetic acid
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 : Mental retardation can occur in (A) Cretinism (B) Juvenile myxoedema (C) Myxoedema (D) Juvenile thyrotoxicosis
Description : Mental retardation occurs in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) All of these
Description : An important finding of Fabry’s disease is (A) Skin rash (B) Exophthalmos (C) Hemolytic anemia (D) Mental retardation
Description : Clinical symptom in urea cycle disorder is (A) Mental retardation (B) Drowsiness (C) Diarrhoea (D) Oedema
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
Description : Congenital galactosaemia can lead to (A) Mental retardation (B) Premature cataract (C) Death (D) All of the above
Last Answer : D
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.