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 : Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase
Last Answer : Answer : B
Description : An inborn error, maple syrup urine disease is due to deficiency of the enzyme: (A) Isovaleryl-CoAhydrogenase (B) Phenylalnine hydroxylase (C) Adenosyl transferase (D) α-Ketoacid decarboxylase
Last Answer : Answer : D
Description : Albinism is due to deficiency of the enzyme: (A) Phenylalanine hydroxylase (B) Tyrosinase (C) p-Hydroxyphenylpyruvic acid oxidase (D) Tyrosine dehydrogenase
Description : Selenium is a constituent of the enzyme: (A) Glutathione peroxidase (B) Homogentisate oxidase (C) Tyrosine hydroxylase (D) Phenylalanin hydroxylase
Last Answer : Answer : A
Description : Richner-Hanhart syndrome is due to defect in (A) Tyrosinase (B) Phenylalanine hydroxylase (C) Hepatic tyrosine transaminase (D) Fumarylacetoacetate hydrolase
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 : Most of the ammonia released from L-αamino acids reflects the coupled action of transaminase and (A) L-glutamate dehydrogenase (B) L-amino acid oxidase (C) Histidase (D) Serine dehydratase
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 : Absence of phenylalanine hydroxylase causes (A) Neonatal tyrosinemia (B) Phenylketonuria (C) Primary hyperoxaluria (D) Albinism
Description : Enzymic deficiency in β-aminoisobutyric aciduria is (A) Adenosine deaminase (B) Xanthine oxidase (C) Orotidylate decarboxylase (D) Transaminase
Description : An autosomal recessive disorder, xanthinuria is due to deficiency of the enzymes: (A) Adenosine deaminase (B) Xanthine oxidase (C) HGPRTase (D) Transaminase
Description : Neonatal tyrosinemia is due to deficiency of the enzyme: (A) p-Hydroxyphenylpyruvate hydroxylase (B) Fumarylacetoacetate hydrolase (C) Phenylalanine hydroxylase (D) Tyrosine dehydrogenase
Description : Increased urinary indole acetic acid is diagnostic of (A) Maple syrup urine disease (B) Hartnup disease (C) Homocystinuia (D) Phenylketonuria
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 : The deficiency of copper decreases the activity of the enzyme: (A) Lysine oxidase (B) Lysine hydroxylase (C) Tyrosine oxidase (D) Proline hydroxylase
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 : 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 : 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 : Tyrosinosis is due to defect in the enzyme: (A) Fumarylacetoacetate hydrolase (B) p-Hydroxyphenylpyruvate hydroxylase (C) Tyrosine transaminase (D) Tyrosine hydroxylase
Description : Tyrosine hydroxylase is inhibited by (A) Catecholamines (B) α−Methyldopa (C) Phenylalanine (D) Vanillyl mandelic acid
Description : In the B chain of insulin molecule, the Nterminal amino acid is (A) Proline (B) Threonine (C) Phenylalanine (D) Lysine
Description : In A chain of the insulin molecule the Nterminal amino acid is (A) Glycine (B) Valine (C) Serine (D) Phenylalanine
Description : Branched chain amino acids are (A) Cysteine and cystine (B) Tyrosine and Tryptophan (C) Glycine and Serine (D) Valine, Leucine and Isoleucine
Description : All the following are branched chain amino acids except (A) Isoleucine (B) Alanine (C) Leucine (D) Valine
Description : What are branched chain amino acids?
Last Answer : Valine, leucine and isoleucine.
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 : A modified amino acid solution with increased equimolar branched-chain amino acids and decreased aromatic amino acids has been proposed for patients with hepatic insufficiency. Which of the following ... D. In some studies of surgical patients, improvements in mortality have been reported.
Last Answer : Answer: D DISCUSSION: The use of modified amino acid solutions is based on the false neurotransmitter hypothesis of the cause of hepatic coma. According to this hypothesis, the imbalance ... in a group of patients with cirrhosis, decreasing morbidity and showing a trend toward decreased mortality
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 : Hydroxylation of phenylalanine requires all of the following except (A) Phenylalanine hydroxylase (B) Tetrahydrobiopterin (C) NADH (D) Molecular oxygen
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 : Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase
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 : Refsum’s disease is due to deficiency of the enzyme: (A) Pytantate-α-oxidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Ceramide trihexosidase
Description : Thyroid hormones are synthesized by the iodination of the amino acid: (A) Glycine (B) Phenylalanine (C) Alanine (D) Tyrosine
Description : Activation or inactivation of certain key regulatory enzymes is accomplished by covalent modification of the amino acid: (A) Tyrosine (B) Phenylalanine (C) Lysine (D) Serine
Description : The amino acid which synthesizes many hormornes: (A) Valine (B) Phenylalanine (C) Alanine (D) Histidine
Description : Which one of the following is an essential amino acid? (A) Arginine (B) Tyrosine (C) Phenylalanine (D) Proline
Description : The amino acid containing an indole ring: (A) Tryptophan (B) Arginine (C) Threonine (D) Phenylalanine
Description : Seratonin is derived in the body from the following amino acid: (A) Phenylalanine (B) Histidine (C) Tryptophan (D) Serine
Description : The limiting amino acid of rice is (A) Lysine (B) Tryptophan (C) Phenylalanine (D) Tyrosine
Description : Million-Nasse’s reaction is specific for the amino acid: (A) Tryptophan (B) Tyrosine (C) Phenylalanine (D) Arginine
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 : 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
Last Answer : (A) Carboxylase
Description : Deficiency of biotin results in decrease in (A) Amino acid synthesis (B) Lipid synthesis (C) Kidney (D) Fatty acid synthesis
Description : Vitamin required for the conversion of phydroxyphenylpyruvate to homogentisate is (A) Folacin (B) Cobalamin (C) Ascorbic acid (D) Niacin
Description : I-cell disease results from absence of the following from lysosomal enzymes: (A) Signal sequence (B) Mannose-6-phosphate (C) Sialic acid (D) A serine residue