Question

Write the causes and symptoms of the following inherited disorder:

a) Alkaptonuria

b) Phenylketoria

10 Feb 2025
Answer :
Word Count : 247

a) Alkaptonuria  

Causes:  
- Alkaptonuria is caused by a mutation in the HGD gene, which encodes the enzyme homogentisate 1,2-dioxygenase.  
- This enzyme is responsible for breaking down homogentisic acid in the tyrosine metabolism pathway.  
- A defective enzyme leads to the accumulation of homogentisic acid in the body, which gets excreted in urine ______ ____ ________ ______ ________ _______.
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