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
Description : Richner-Hanhart syndrome is due to defect in (A) Tyrosinase (B) Phenylalanine hydroxylase (C) Hepatic tyrosine transaminase (D) Fumarylacetoacetate hydrolase
Last Answer : Answer : B
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
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 : Albinism is a congenital disorder resulting from the lack of which enzyme? (a) Tyrosinase (b) Xanthine oxidase (c) Catalase (d) Fructokinase
Last Answer : (a) Tyrosinase
Description : Absence of phenylalanine hydroxylase causes (A) Neonatal tyrosinemia (B) Phenylketonuria (C) Primary hyperoxaluria (D) Albinism
Last Answer : Answer : D
Description : Formation of melanin from tyrosine requires the action of (A) Dopa decarboxylation (B) Diamine oxidase (C) Peroxidase (D) Tyrosinase
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
Last Answer : Answer : A
Description : An important finding of Fabry’s disease is (A) Skin rash (B) Exophthalmos (C) Hemolytic anemia (D) Mental retardation
Description : Which of the following terms refers to a condition characterized by destruction of the melanocytes in circumscribed areas of the skin? a) Vitiligo Vitiligo results in the development of white patches ... refers to red marks on the skin caused by stretching of the superficial blood vessels.
Last Answer : a) Vitiligo Vitiligo results in the development of white patches that may be localized or widespread.
Description : In adrenogenital syndrome due to total absence of 21-hydroxylase in adrenal cortex, there is (A) Deficient secretion of glucocorticoids (B) Deficient secretion of mineralcorticoids (C) Excessive secretion of androgens (D) All of these
Description : Tyrosine hydroxylase is inhibited by (A) Catecholamines (B) α−Methyldopa (C) Phenylalanine (D) Vanillyl mandelic acid
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 : The biosynthesis of both Catecholamine and serotonin require (A) Tyrosine hydroxylase (B) N-methyl transferase (C) Aromatic amino acid decarboxylase (D) Tryptophan pyrrolase
Description : In the synthetic pathway of epinephrine, disulfiram (antabuse) inhibits the enzyme: (A) Tyrosine hydroxylase (B) Dopamine β-hydroxylase (C) DOPA decarboxylase (D) 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 : Selenium is a constituent of the enzyme: (A) Glutathione peroxidase (B) Homogentisate oxidase (C) Tyrosine hydroxylase (D) Phenylalanin hydroxylase
Description : The deficiency of copper decreases the activity of the enzyme: (A) Lysine oxidase (B) Lysine hydroxylase (C) Tyrosine oxidase (D) Proline hydroxylase
Description : Neonatal tyrosinemia is due to deficiency of the enzyme: (A) p-Hydroxyphenylpyruvate hydroxylase (B) Fumarylacetoacetate hydrolase (C) Phenylalanine hydroxylase (D) Tyrosine dehydrogenase
Description : Tyrosinosis is due to defect in the enzyme: (A) Fumarylacetoacetate hydrolase (B) p-Hydroxyphenylpyruvate hydroxylase (C) Tyrosine transaminase (D) Tyrosine hydroxylase
Description : Conversion of tyrosine to dihydroxyphenylalanine is catalysed by tyrosine hydroxylase which requires (A) NAD (B) FAD (C) ATP (D) Tetrahydrobiopterin
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.
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 : The proteins present in maize are deficient in (A) Lysine (B) Threonine (C) Tryptophan (D) Tyrosine
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
Description : Which group of three of the following five statements (1-5) contain all three correct statements regarding beri-beri? 1. A crippling disease prevalent among the native population of sub-Saharan Africa. 2. A deficiency disease caused by lack ... and 5 (b) 1, 2 and 4 (c) 1, 3 and 5 (d) 2, 3 and 5
Last Answer : a) 2, 4 and 5
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 : Mental retardation can occur in (A) Cretinism (B) Juvenile myxoedema (C) Myxoedema (D) Juvenile thyrotoxicosis
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 : Mental retardation occurs in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) All of these
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.
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.
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
Description : The rate limiting enzyme in the synthesis of catecholamines is: A. Tyrosine hydroxylase B. Dopa decarboxylase C. Dopamine β-hydroxylase D. Noradrenaline N-methyl transferase
Last Answer : A. Tyrosine hydroxylase
Description : Glucose-6-phosphatase is absent or deficient in (A) Von Gierke’s disease (B) Pompe’s disease (C) Cori’s disease (D) McArdle’s disease
Last Answer : A
Description : All the following statements about xeroderma pigmentosum are true except (A) It is a genetic disease (B) Its inheritance is autosomal dominant (C) uvr ABC excinuclease is defective in this disease (D) It results in multiple skin cancers
Description : All the following statements about epidermal growth factor are true except (A) It is a protein (B) It possess quaternary structure (C) Its receptor is made up of a single polypeptide chain (D) Its receptor possesses tyrosine kinase domain
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 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 : 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
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.
Description : MSH causes (A) Dispersal of melanin granules in melanocytes (B) Increase in melanin concentration in melanocytes (C) Decerease in melanin concentration in melanocytes (D) Increase in number of melanocytes
Description : Melatonin is synthesised in (A) Hypothalamus (B) Posterior pituitary gland (C) Pineal gland (D) Melanocytes
Description : Hydroxylation of phenylalanine requires all of the following except (A) Phenylalanine hydroxylase (B) Tetrahydrobiopterin (C) NADH (D) Molecular oxygen