Question
2. Name the defective enzyme in the following diseases:
a) Alcaptonuria
b) Gaucher's disease
c) Homocystinuria
d) Pentosuria
e) Albinism
3. Give the significance/role of following:
a) Conversion of IMP to AMP
b) Vitamin B6 in transamination
c) Oxygen free radicals
d) Phenylalanine hydroxylase
e) Fight or flight response
Answer :
Word Count : 304
2. a) In Alcaptonuria, the defective enzyme is homogentisate oxidase, which leads to the accumulation of homogentisic acid, a product in tyrosine metabolism. b) In Gaucher’s disease, the defective enzyme is β-glucocerebrosidase (glucocerebroside beta-glucosidase), causing lipid accumulation in cells due to impaired breakdown of glucocerebrosides. c) In Homocystinuria, the defective enzyme is cystathionine β-synthase, which affects methionine metabolism, resulting in elevated homocysteine levels. d) In Pentosuria, the defective enzyme is L-xylulose reductase, which prevents proper metabolism _______ ____ _________ ___ ___ _______ ___ ______ _________ ______ __________.
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2. a) In Alcaptonuria, the defective enzyme is homogentisate oxidase, which leads to the accumulation of homogentisic acid, a product in tyrosine metabolism. b) In Gaucher’s disease, the defective enzyme is β-glucocerebrosidase (glucocerebroside beta-glucosidase), causing lipid accumulation in cells due to impaired breakdown of glucocerebrosides. c) In Homocystinuria, the defective enzyme is cystathionine β-synthase, which affects methionine metabolism, resulting in elevated homocysteine levels. d) In Pentosuria, the defective enzyme is L-xylulose reductase, which prevents proper metabolism _______ ____ _________ ___ ___ _______ ___ ______ _________ ______ __________.
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