Description : Enzymic deficiency in β-aminoisobutyric aciduria is (A) Adenosine deaminase (B) Xanthine oxidase (C) Orotidylate decarboxylase (D) Transaminase
Last Answer : Answer : D
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
Last Answer : Answer : A
Description : Mammals other than higher primates do not suffer from gout because they (A) Lack xanthine oxidase (B) Lack adenosine deaminase (C) Lack purine nucleoside phosphorylase (D) Possess uricase
Description : Which of the following statements are true of oxidants? A. In addition to their pathophysiologic roles in inflammation, injury, and infection, oxidants also have physiologic roles. B. Oxidants may ... involved the catalytic production of superoxide anion (O 2 ) by the enzyme xanthine oxidase.
Last Answer : Answer: ABCD DISCUSSION: Oxidants are reactive oxygen metabolites that have both physiologic and pathophysiologic roles. As potent oxidizing agents, oxidants are involved in cytochrome P ... leukocyte infiltration and activation, causing further tissue damage by the release of cytotoxic proteases
Description : Trials for gene therapy in human beings were first carried out, with considerable success, in a genetic disease called (A) Cystic fibrosis (B) Thalassemia (C) Adenosine deaminase deficiency (D) Lesch-Nyhan syndrome
Last Answer : Answer : C
Description : Inherited deficiency of adenosine deaminase causes (A) Hyperuricaemia and gout (B) Mental retardation (C) Immunodeficiency (D) Dwarfism
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 : Lesch-Nyhan syndrome, the sex linked, recessive absence of HGPRTase, may lead to (A) Compulsive self destructive behaviour with elevated levels of urate in serum (B) Hypouricemia due to liver damage (C) Failure to thrive and megaloblastic anemia (D) Protein intolerance and hepatic encephalopathy
Description : A common substrate of HGPRTase, APRTase and PRPP glutamyl amidotransferase is (A) Ribose 5 phosphate (B) Phosphoribosyl pyrophosphate (C) Hypoxanthine (D) Adenosine
Last Answer : Answer : B
Description : Hypouricaemia can occur in (A) Xanthine oxidase deficiency (B) Psoriasis (C) Leukaemia (D) None of these
Description : All of the following statements about Tangier disease are true except (A) It is a disorder of HDL metabolism (B) Its inheritance is autosomal recessive (C) Apoproteins A-I and A-II are not synthesised (D) Plasma HDL is increased
Description : Pick out the correct statements. (1) Haemophilia is a sex-linked recessive disease. (2) Down's syndrome is due to aneuploidy. (3) Phenylketonuria is an autosomal recessive gene disorder. (4) Sickle cell anaemia is an X- ... are correct. (c) (1) and (4) are correct. (d) (2) and (4) are correct.
Last Answer : (b) (1), (2) and (3) are correct.
Description : What is Adenosine deaminase (ADA) deficiency? -Biology
Last Answer : answer:
Description : Which kind of therapy was given in 1990 to a four year old girl with adenosine deaminase (ADA) deficiency?
Last Answer : Which kind of therapy was given in 1990 to a four year old girl with adenosine deaminase (ADA ... B. radiation therapy C. gene therapy D. chemotherapy
Description : The genetic defect-adenosine deaminase (ADA) deficiency may be cured permanently by (a) administering adenosine deaminase activators (b) introducing bone marrow cells producing ADA into ... replacement therapy (d) periodic infusion of genetically engineered lymphocytes having functional ADA cDNA
Last Answer : (b) introducing bone marrow cells producing ADA into cells at early embryonic stages
Description : The first clinical gene therapy was given for treating (a) diabetes mellitus (b) chicken pox (c) rheumatoid arthritis (d) adenosine deaminase deficiency.
Last Answer : (d) adenosine deaminase deficiency.
Description : Which kind of therapy was given in 1990 to a four- year-old girl with adenosine deaminase (ADA) deficiency? (a) Gene therapy (b) Chemotherapy (c) Immunotherapy (d) Radiation therapy
Last Answer : (a) Gene therapy
Description : Match the following columns and select the correct option. Column-I Column-II (A) Bt cotton (i) Gene therapy (B) Adenosine (ii) Cellular defence deaminase deficiency (C) RNAi (iii) Detection of HIV infection (D) PCR (iv) Bacillus ... (i) (iv) (c) (ii) (iii) (iv) (i) (d) (i) (ii) (iii) (iv)
Last Answer : (a) (iv) (i) (ii) (iii)
Description : All are true about lesch-nyhan syndrome except (A) Produces self-mutilation (B) Genetic deficiency of the enzyme (C) Elevated levels of uric acid in blood (D) Inheritance is autosomal recessive
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 : Which of the following enzymes is ultimately responsible for the production of prostaglandins associated with inflammatory reactions? (a) Phospholipase (b) Lipoxygenase (c) Cyclooxygenase-I (d) Cyclooxygenase II (e) Xanthine oxidase
Last Answer : Ans: D
Description : If both parents are carriers for thalassaemia, which is an autosomal recessive disorder, what are the chances of pregnancy resulting in an affected child? (a) 25% (b) 100% (c) No chance (d) 50%
Last Answer : 25%
Description : Ataxia is the term that refers to a) uncoordinated muscle movement. Ataxia-telangiectasia is an autosomal recessive disorder affecting both T-cell and B-cell immunity. b) vascular lesions ... to understand the spoken word. d) difficulty swallowing. Dysphagia refers to difficulty swallowing.
Last Answer : a) uncoordinated muscle movement. Ataxia-telangiectasia is an autosomal recessive disorder affecting both T-cell and B-cell immunity.
Description : In humans purine are catabolised to uric acid due to lack of the enzyme: (A) Urease (B) Uricase (C) Xanthine oxidase (D) Guanase
Description : The enzyme common to catabolism of all the purines is (A) Adenosine deaminase (B) Purine nucleoside phosphorylase (C) Guanase (D) None of these
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 : Epinephrine is rapidly metabolized by (A) Monoamine oxidase (B) Deaminase (C) Transminase (D) Decarboxylase
Description : The correct sequence of the reactions of catabolism of adenosine to uric acid is (A) Adenosine→hypoxanthine→xanthine→uric acid (B) Adenosine→xanthine→inosine→uric acid (C) Adenosine→inosine→hypoxanthine→ xanthine uric acid (D) Adenosine→xanthine→inosine→hypoxanthine uric acid
Description : A drug which prevents uric acid synthesis by inhibiting the enzyme Xanthine oxidase is (A) Aspirin (B) Allopurinal (C) Colchicine (D) Phenyl benzoate
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 : Molybdenum is a cofactor for (A) Xanthine oxidase (B) Aldehyde oxidase (C) Sulphite oxidase (D) All of these
Description : Iron is present in all the following except (A) Peroxidase (B) Xanthine oxidase (C) Aconitase (D) Fumarase
Description : A copper containing oxidase is (A) Cytochrome oxidase (B) Flavin mononucleotide (C) Flavin adenine dinucleotide (D) Xanthine oxidase
Description : A molybdenum containing oxidase is (A) Cytochrome oxidase (B) Xanthine oxidase (C) Glucose oxidase (D) L-Amino acid oxidase
Description : Schardinger’s enzyme is (A) Lactate dehydrogenase (B) Xanthine dehydrogenase (C) Uric oxidase (D) L amino acid dehydrogenase
Description : Physostigmine is a competitive inhibitor of (A) Xanthine oxidase (B) Cholinesterase (C) Carbonic anhydrase (D) Monoamine oxidase
Description : An enzyme which uses hydrogen acceptor as substrate is (A) Xanthine oxidase (B) Aldehyde oxidase (C) Catalase (D) Tryptophan oxygenase
Description : Insulin degradation of disulfide bond formation is effected by (A) Pyruvate dehydrogenase (B) Xylitol reductase (C) Gutathione reductase (D) Xanthine oxidase
Description : A drug which prevents uric acid synthesis by inhibiting the enzyme xanthine oxidase is (A) Aspirin (B) Allopurinol (C) Colchicine (D) Probenecid
Last Answer : B
Description : Inheritance of primary gout is (A) Autosomal recessive (B) Autosomal dominant (C) X-linked recessive (D) X-linked dominant
Description : All the following statements about cystic fibrosis are correct except (A) It is inherited as an autosomal recessive disease (B) It affects a number of exocrine glands (C) It causes increased sweating (D) Sweat chlorides are above 60 mEq/L in this disease
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 : Which of the following is true of Gilbert's syndrome? 1) inheritance is autosomal recessive 2) serum conjugated bilirubin levels are elevated 3) serum bilirubin levels are decreased by fasting 4) serum bilirubin levels are decreased by liver enzyme inducers 5) there is bilirubinuria
Last Answer : Answers-4 Gilbert's syndrome is inherited in autosomal dominant fashion and affects 2-5% of the population. UDP glucuronyl transferase levels are reduced leading to an unconjugated hyperbilirubinaemia. ... the bilirubin is reabsorbed in the proximal tubule some bilirubin is detectable in the urine.
Description : Albinism is known to be due to an autosomal recessive mutation. The first child of a couple with normal skin pigmentation was an albino. What is the probability that their second child will also be an albino? (a) 50% (b) 75% (c) 100% (d) 25%
Last Answer : (d) 25%
Description : Thioguanine differs from mercaptopurine in that: A. It is not metabolized by xanthine oxidase B. It does not cause hyperuricemia C. Its dose need not be reduced when allopurinol is given concurrently D. Both ‘A’ and ‘C’ are correc
Last Answer : D. Both ‘A’ and ‘C’ are correct
Description : Choose the correct statement about allopurinol: A. It is a purine antimetabolite with antineoplastic activity B. It is a competitive inhibitor of xanthine oxidase C. It is inactive itself ... D. Both allopurinol as well as its metabolite alloxanthine are noncompetitive inhibitors of xanthine oxidase
Last Answer : B. It is a competitive inhibitor of xanthine oxidase
Last Answer : (B) Allopurinol
Description : Hereditary coproporphyria is caused due to deficiency of (A) Protoporphyrinogen oxidase (B) ALA synthase (C) ALA dehydratase (D) Coproporphyrinogen oxidase
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 : Albinism is due to deficiency of the enzyme: (A) Phenylalanine hydroxylase (B) Tyrosinase (C) p-Hydroxyphenylpyruvic acid oxidase (D) Tyrosine dehydrogenase