Description : The enzyme involved in variegate porphyria is (A) Protoporphyrinogen oxidase (B) Coproporphyrinogen oxidase (C) Uroporphyrinogen decarboxylase (D) ALA decarboxylase
Last Answer : Answer : A
Description : The probable cause of porphyria cutanea tarda is deficiency of (A) Uroporphyrinogen oxidase (B) Coproporphyrinogen oxidase (C) Protoporphyrinogen oxidase (D) Uroporphyrinogen I synthase MINERAL METABOLISM 185
Description : Hereditary coproporphyria is caused due to deficiency of (A) Protoporphyrinogen oxidase (B) ALA synthase (C) ALA dehydratase (D) Coproporphyrinogen oxidase
Last Answer : Answer : D
Description : Conversion of uroporphyrinogen III to coprophyrinogen III is catalysed by the enzyme.: (A) Uroporphyrinogen decarboxylase (B) Coproporphyrinogen oxidase (C) Protoporphyrinogen oxidase (D) Ferrochelatase
Description : The enzyme involved in congenial erythropoietic porphyria is (A) Uroporphyrinogen I synthase (B) Uroporphyrinogen III cosynthase (C) Protoporphyrinogen oxidase (D) Ferrochelatase
Last Answer : Answer : B
Description : The condensation of 2 molecules of δ-aminolevulinate dehydratase contains (A) ALA synthase (B) ALA hydratase (C) Uroporphyrinogen synthase I (D) Uroporphyrinogen synthase III
Description : In mammalian liver the rate controlling enzyme in porphyrin biosynthesis is (A) ALA synthase (B) ALA hydratase (C) Uroporphyrinogen I synthase (D) Uroporphyrinogen III cosynthase
Description : The characteristic urinary finding in acute intermittent porphyria is (A) Increased quantity of uroporphyrin (B) Increased quantity of coproporphyrin I (C) Increased quantity of coproporphyrin III (D) Massive quantities of porphobilinogen
Description : The major symptom of acute intermittent porphyria includes (A) Abdominal pain (B) Photosensitivity (C) No neuropsychiatric signs (D) Dermatitis
Description : Which of the following is a characteristic feature of acute intermittent porphyria? 1) autosomal recessive inheritance 2) excessive faecal protoporphyrin excretion 3) excessive urinary porphobilinigoen between acute attacks 4) hypernatraemia during attacks 5) photosensitivity
Last Answer : Answers-3 Features of acute intermittent porphyria include urinary porphobilinogen excretion raised between attacks, hyponatraemia during an acute attack and autosomal dominant inheritance.
Description : Does anyone else on here have or know about Acute Intermittent Porphyria?
Last Answer : answer:Pee in a covered glass, leave it outside on a sunny day – all day. If it turns purple, you’ve got it. Seriously. Not foolproof, but you know… you could always GO TO YOUR DOCTOR IF YOU SUSPECT A SERIOUS CONDITION. What makes you think you have it?
Description : Protoporphyria (erythrohepatic) is characterized by the deficiency of (A) ALA synthase (B) ALA hydratase (C) Protophyrinogen oxidae (D) Ferrochelatase
Description : Enzymic deficiency in β-aminoisobutyric aciduria is (A) Adenosine deaminase (B) Xanthine oxidase (C) Orotidylate decarboxylase (D) Transaminase
Description : Conversion of the linear tetrapyrrole hydroxymethylbilane to uroporphyrinogen III (A) Occurs spontaneously (B) Catalysed by uroporphyrinogen I synthase (C) Catalysed by uroporphyrinogen III cosynthase (D) Catalysed by combined action of uroporphyrinogen I synthase and uroporphyrinogen III cosynthase
Description : The characteristic urinary finding in porphyria cutanea tarda is (A) Increased quantity of porphobilinogen (B) Increased quantity of red cell protoporphyrin (C) Increased quantity of uroporphyrin (D) Increased quantity of δ-ALA
Last Answer : Answer : C
Description : Pompe ’s d isease is caused due to deficiency of (A) Lysosomal α-1→4 and 1→6-glucosidase (B) Glucose-6-phosphatase (C) Glycogen synthase (D) Phosphofructokinase
Description : Many xenobiotics (A) Increase hepatic ALA synthase (B) Decrease hepatic ALA sythase (C) Increase hepatic ALA dehydrase (D) Decrease hepatic ALA dehydrase
Description : The synthesis of heme from protophyrin III is catalysed by the enzyme: (A) ALA synthase (B) Ferroreductase (C) Ferrooxidase (D) Ferrochelatase
Description : An enzyme involved in catabolism of catecholamines is (A) Dopa decarboxylase (B) Aromatic amino acid decarboxylase (C) Monoamine oxidase (D) Catechol oxidas
Description : Epinephrine is rapidly metabolized by (A) Monoamine oxidase (B) Deaminase (C) Transminase (D) Decarboxylase
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 : The defective enzyme in histidinemia is (A) Histidine carboxylase (B) Histidine decarboxylase (C) Histidase (D) Histidine oxidase
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
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 : 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 : An autosomal recessive disorder, xanthinuria is due to deficiency of the enzymes: (A) Adenosine deaminase (B) Xanthine oxidase (C) HGPRTase (D) Transaminase
Description : Albinism is due to deficiency of the enzyme: (A) Phenylalanine hydroxylase (B) Tyrosinase (C) p-Hydroxyphenylpyruvic acid oxidase (D) Tyrosine dehydrogenase
Description : Refsum’s disease is due to deficiency of the enzyme: (A) Pytantate-α-oxidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Ceramide trihexosidase
Description : Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase
Description : Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase
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 : Cori disease (Limit dextrinosis) is caused due to absence of (A) Branching enzyme (B) Debranching enzyme (C) Glycogen synthase (D) Phosphorylase
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 II reflects the deficiency of the enzyme: (A) Orotate phosphoribosyl transferase (B) Orotidylate decarboxylase (C) Dihydroorotase (D) Dihydroorotate dehydrogenase
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
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 : The best known cause of galactosemia is the deficiency of (A) Galactose 1-phosphate and uridyl transferase (B) Phosphoglucomutase (C) Galactokinase (D) Lactose synthase
Description : Her’s disease is characterized by deficiency of (A) Muscle phosphorylase (B) Liver phosphorylase (C) Debranching enzyme (D) Glycogen synthase
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 : Hypouricaemia can occur in (A) Xanthine oxidase deficiency (B) Psoriasis (C) Leukaemia (D) None of these
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 : Acute hemolytic episode after administration of antimalarial, primaquin, is due to deficiency of the enzyme: (A) 6-Phosphogluconate dehydrogenase (B) Glucose-6-phosphate dehydrogenase (C) Epimerase (D) Transketolase
Description : Acute hemolytic anemia in person’s sensitive to the Fava beans is due to the deficiency of the enzyme: (A) Pyruvate dehydrogenase (B) G-6-PD (C) Aconitase (D) Transketolase
Description : The most prominent feature of acute apical periodontitis is: A. Tenderness of tooth to pressure B. Extra oral swelling C. Intermittent pain
Last Answer : A. Tenderness of tooth to pressure
Description : In the biosynthesis of the iron protoporphyrin, the product of the condensation between succinyl-CoA and glycine is (A) α-Amino β-ketoadipic acid (B) δ-Aminolevulinate (C) Hydroxymethylbilane (D) Uroporphyrinogen I
Description : Haem synthetase is congenitally deficient in (A) Congenital erythropoietic porphyria (B) Protoporphyria (C) Hereditary coproporphyria (D) Variegate porphyria
Description : Main symptoms of congenital erythropoietic porphyria is (A) Yellowish teeth (B) Photosensitivity (C) Abdominal pain (D) Brownish urine
Description : Hypervitaminosis K in neonates may cause (A) Porphyria (B) Jaundice (C) Pellagra (D) Prolonged bleeding
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