What genetic deficiency is associated with phenylalanine hydroxylase?

Phenylalanine hydroxylase is an enzyme that plays a critical role in the metabolic pathway that converts phenylalanine to tyrosine. A deficiency in this enzyme leads to the accumulation of phenylalanine in the body, which can result in significant neurological damage and developmental issues if not managed appropriately.

This condition is known as phenylketonuria (PKU). It is an autosomal recessive disorder that commonly arises from mutations in the gene responsible for producing phenylalanine hydroxylase. Infants with PKU typically appear normal at birth, but if untreated, high levels of phenylalanine can lead to intellectual disability, seizures, and other serious health problems.

While other listed conditions also relate to metabolic abnormalities, they do not directly correspond to a deficiency of phenylalanine hydroxylase. Malignant PKU refers to a more severe form that involves additional metabolic defects. Albinism is associated with defects in melanin production, not phenylalanine metabolism. Maple syrup urine disease involves a different enzyme deficiency affecting branched-chain amino acid metabolism. Thus, recognizing the role of phenylalanine hydroxylase in PKU is essential in understanding this genetic disorder.