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
Last Answer : Answer : D
Description : Maple syrup urine diseases is an inborn error of metabolism of (A) Sulphur-containing amino acids (B) Aromatic amino acids (C) Branched chain amino acids (D) Dicarboxylic amino acids
Last Answer : Answer : C
Description : The α-ketoacid is decarboxylated by H2O2 forming a carboxylic acid with one carbon atom less in the absence of the enzyme: (A) Catalase (B) Decarboxylase (C) Deaminase (D) Phosphatase
Last Answer : Answer : A
Description : Which of the following enzyme defects is associated with a characteristic body odour? 1) Phenylalanine aminotransferase 2) Galactose0-phosphate-uridyltransferase 3) Ornithine transcarbamylase deficiency 4) Fumaryl acetoacetase 5) Branched chain ketoacid decarboxylase
Last Answer : Answers-5 The following inborn errors of amino acid metabolism are associated with abnormal odours: Glutaric acidaemia type II (sweaty feet), hawkinsinuria (swimming pool), isovaleric acidaemia (sweaty feet), ... The general rule is that if a child smells peculiar he requires a metabolic work-up.
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
Last Answer : Answer : B
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 : 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 : Orotic aciduria type II reflects the deficiency of the enzyme: (A) Orotate phosphoribosyl transferase (B) Orotidylate decarboxylase (C) Dihydroorotase (D) Dihydroorotate dehydrogenase
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 : For Catecholamine biosynthesis the rate limiting enzyme is (A) DOPA decarboxylase (B) DOPAMINE β-hydroxylase (C) Tyrosine hydroxylase (D) Phenylalanine hydroxylase
Description : Biotin is a coenzyme of the enzyme (A) Carboxylase (B) Hydroxylase (C) Decarboxylase (D) Deaminase
Description : Vitamin K is involved in posttranslational modification of the blood clotting factors by acting as cofactor for the enzyme: (A) Carboxylase (B) Decarboxylase (C) Hydroxylase (D) Oxidase
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 : 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 : (A) Carboxylase
Description : Vitamin K is involved in posttranslational modification of the blood clotting factors by acting as cofactor for the enzyme (A) Carboxylase (B) Decarboxylase (C) Hydroxylase (D) Oxidase
Description : An important feature of maple syrup urine disease is (A) Patient can not be treated by dietary regulation (B) Without treatment death, of patient may occur by the end of second year of life (C) Blood levels of leucine, isoleucine and serine are increased (D) Excessive brain damage
Description : Maple syrup urine disease becomes evident in extra uterine life by the end of (A) First week (B) Second week (C) Third week (D) Fourth week
Description : Increased urinary indole acetic acid is diagnostic of (A) Maple syrup urine disease (B) Hartnup disease (C) Homocystinuia (D) Phenylketonuria
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 : Neonatal tyrosinemia is due to deficiency of the enzyme: (A) p-Hydroxyphenylpyruvate hydroxylase (B) Fumarylacetoacetate hydrolase (C) Phenylalanine hydroxylase (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
Description : Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase
Description : Lack of Glucocorticoids and mineral corticoids might be consequence of which of the following defects in the adrenal cortex? (A) Androstenadione deficiency (B) Estrone deficiency (C) 17 α-OH progesterone deficiency (D) C- α-Hydroxylase deficiency
Description : The defect in adrenal cortex responsible for lack of glucocorticoids and mineralcorticoids is (A) Androstenedione deficiency (B) 17 α -OH progesterone deficiency (C) C-21 hydroxylase deficiency (D) Testosterone deficiency HORMONE METABOLISM 209
Description : Refsum’s disease is due to deficiency of the enzyme: (A) Pytantate-α-oxidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Ceramide trihexosidase
Description : Farber’s disease is due to the deficiency of the enzyme: (A) α-Galactosidase (B) Ceramidase (C) β-Glucocerebrosidase (D) Arylsulphatase A.
Description : Gaucher’s disease is due to the deficiency of the enzyme: (A) α-Fucosidase (B) β-Galactosidase (C) β-Glucosidase (D) Sphingomyelinase
Description : The following ketoacid is involved in fixing dietary NH3 into amino acid: (A) Pyruvate (B) Oxalo acetate (C) Oxalo succinate (D) α-keto glutarate
Description : Maple syrup urine disease?
Last Answer : DefinitionMaple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition ... . Even in the mildest form, repeated periods of physical stress can cause mental retardationand h
Description : -child , urine odor like burned sugar: - Phenylketonuria - Maple syrup urine disease
Last Answer : Maple syrup urine disease _______________________________
Description : Defective enzyme in Hurler’s syndrome is (A) α-L-diuronidase (B) Iduronate sulphatase (C) Arylsulphatase B (D) C-acetyl transferase
Description : Defective enzyme in Hunter’s syndrome is (A) α-L-iduronidase (B) Iduronate sulphatase (C) Arylsulphatase B (D) C-acetyl transferase
Description : In glycogenolysis, the enzyme which transfers a trisaccharide unit from one branch to the other exposing 1→ 6 branch point is (A) Phosphorylase (B) α-[1→ 4]→ α-[1→ 4]→ Glucan transferase (C) Amylo [1→ 6] glucosidase (D) Amylo[1→ 4]→ [1→ 6] transglucosidase
Description : In glycogenesis a branch point in the molecule is established by the enzyme (A) Amylo[1→ 4][1→ 6] transglucosidase (B) α [1→ 4] α [1→ 4] Glucan transferase (C) Amylo [1→ 6] glucosidase (D) Glycogen synthase
Description : The deficiency of copper decreases the activity of the enzyme: (A) Lysine oxidase (B) Lysine hydroxylase (C) Tyrosine oxidase (D) Proline hydroxylase
Description : β-Carotene, precursor of vitamin A, is oxidatively cleaved by (A) β-Carotene dioxygenase (B) Oxygenase (C) Hydroxylase (D) Transferase
Description : Metachromatic leukodystrophy is due to deficiency of enzyme: (A) α-Fucosidase (B) Arylsulphatase A (C) Ceramidase (D) Hexosaminidase A
Description : Study the pedigree chart given below. What does it show? (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait. (b) The pedigree chart is wrong as this is ... disease like haemophilia. (d) Inheritance of a sex-linked inborn error of metabolism like phenylketonuria
Last Answer : (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait.
Description : Acute intermittent porphyria (paraoxymal porphyria) is caused due to deficiency of (A) Uroporphyrinogen I synthase (B) ALA synthase (C) Coproporphyrinogen oxidase (D) Uroporphyrinogen decarboxylase
Description : Ehlers-Danlos syndrome characterized by hypermobile joints and skin abnormalities is due to (A) Abnormality in gene for procollagen (B) Deficiency of lysyl oxidase (C) Deficiency of prolyl hydroxylase (D) Deficiency of lysyl hydroxylase
Description : The following enzymes on the left are responsible for the synthesis of the neurotransmitters on the right: a. monoamine oxidase: noradrenaline b. cholinesterase: acetylcholine c. catechol-o-methyl transferase: dopamine d. dopa decarboxylase: adrenaline
Last Answer : dopa decarboxylase: adrenaline
Description : Tyrosinosis is due to defect in the enzyme: (A) Fumarylacetoacetate hydrolase (B) p-Hydroxyphenylpyruvate hydroxylase (C) Tyrosine transaminase (D) Tyrosine hydroxylase
Description : Wolman’s disease is due to deficiency of (A) Cholesteryl ester hydrolase (B) Hexosaminidase A (C) α-Fucosidase (D) Arylsulphatase A
Description : The principal rate limiting step in the biosynthesis of bile acids is at the (A) 7-Hydroxylase reaction (B) 12 α-Hydroxylase reaction (C) Conjugation reaction (D) Deconjugation reaction
Description : β-Carotene, precursor of vitamin A, is oxidatively cleaved by (A) β-Carotene dioxygenase (B) Oxygenase \ (C) Hydroxylase (D) Transferase
Last Answer : (A) β-Carotene dioxygenase
Description : Features of methylcobalamin include the following: A. It is an active coenzyme form of vit B12 B. It is required for the synthesis of S-adenosyl methionine C. It is specifically indicated for correcting neurological defects of vit B12 deficiency D. All of the above
Last Answer : D. All of the above
Description : Lesch-Nyhan syndrome, the sex linked recessive disorder is due to the lack of the enzyme: (A) Hypoxanthine-guanine phosphoribosyl transferse (B) Xanthine oxidase (C) Adenine phosphoribosyl transferase (D) Adenosine deaminase