Question

Explain the biochemical basis of the following diseases.

a) Alkaptonuria

b) Maple syrup urine disease

23 Jan 2025
Answer :
Word Count : 237

a) Alkaptonuria:

Alkaptonuria is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme homogentisate oxidase. This enzyme is responsible for breaking down homogentisic acid, a metabolite of the amino acids phenylalanine and tyrosine. In the absence of this enzyme, homogentisic acid accumulates in _________ ____ __________ _________ _______ _____.
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