Which aminoacidopathy is characterized by a failure to metabolize phenylalanine?

Phenylketonuria (PKU) is the aminoacidopathy characterized by a failure to metabolize phenylalanine. This metabolic disorder occurs due to a deficiency in the enzyme phenylalanine hydroxylase, which is responsible for converting phenylalanine to tyrosine. When this enzyme is deficient or absent, phenylalanine accumulates in the body, leading to potentially severe neurological damage and developmental issues if not managed appropriately through dietary restrictions.

Early detection through newborn screening and immediate dietary intervention can significantly reduce the risk of complications associated with this condition. A diet low in phenylalanine, which involves avoiding high-protein foods, is critical for individuals with PKU to maintain their health and support normal development.

Cystinuria, alkaptonuria, and maple syrup disease, while also metabolic disorders, involve different amino acids or pathways and do not specifically relate to the metabolism of phenylalanine. Cystinuria is related to cystine transport issues, alkaptonuria involves the accumulation of homogentisic acid due to a different enzyme deficiency, and maple syrup disease results from an inability to break down branched-chain amino acids. Thus, these conditions do not connect directly to the metabolism of phen