Question

Discuss the inborn errors of amino acid metabolism.

08 Mar 2025
Answer :
Word Count : 594

Inborn errors of amino acid metabolism are a group of genetic disorders caused by defects in enzymes involved in the metabolism of amino acids. These metabolic disorders disrupt the normal breakdown, synthesis, or transport of amino acids, leading to the accumulation of toxic metabolites or deficiencies in essential compounds. These conditions are usually inherited in an autosomal recessive manner and can lead to severe developmental, neurological, and systemic complications if untreated.  

### Phenylketonuria (PKU)  
Phenylketonuria is one of the most well-known inborn errors of metabolism. It is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which converts phenylalanine into tyrosine. A defect in this enzyme leads to the accumulation of phenylalanine in the blood, which can cross the blood-brain barrier and cause neurological damage. If left untreated, PKU results in intellectual disability, seizures, and behavioral problems. The primary treatment is a low-phenylalanine diet _____ _______ ___ ______ ________ ______ ______ _________ ______.
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