Question

Explain the following disorders of amino acid metabolism:

a) Homocystinuria

b) Hartnup disease

08 Feb 2025
Answer :
Word Count : 210

a) Homocystinuria:
Homocystinuria is a genetic disorder caused by a deficiency of the enzyme cystathionine β-synthase, which is involved in the conversion of homocysteine to cystathionine in the methionine metabolism pathway. This leads to an accumulation of homocysteine and its metabolites in the body, which can cause a variety of symptoms _______ _______ _________ _______ _______ __________.
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