What is the inability to metabolize phenylalanine called?

The inability to metabolize phenylalanine is referred to as phenylketonuria (PKU). This genetic disorder is caused by a deficiency of the enzyme phenylalanine hydroxylase, which is essential for converting phenylalanine, an amino acid found in many protein-rich foods, into tyrosine. When phenylalanine accumulates in the body due to this metabolic block, it can lead to serious neurological problems, cognitive impairment, and developmental delays if not properly managed through dietary restrictions.

In cases of PKU, individuals must adhere to a strict low-phenylalanine diet to prevent the toxic buildup of phenylalanine. Early diagnosis through newborn screening and continuous dietary management is crucial for preventing the adverse effects associated with the disorder.

Other genetic conditions mentioned, such as albinism, cystic fibrosis, and maple syrup urine disease, involve different metabolic pathways and deficiencies. Albinism is associated with a lack of pigment due to a mutation affecting melanin production. Cystic fibrosis is related to a defect in the CFTR gene, which disrupts chloride ion transport, affecting respiratory and digestive systems. Maple syrup urine disease involves a deficiency in the enzymes needed to break down certain amino acids, leading to