Nov 17, 2024 · Phenylketonuria (PKU) is a rare but serious inherited metabolic disorder. It occurs in individuals who lack the enzyme phenylalanine hydroxylase, which is necessary for …

May 13, 2022 · Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is …

Phenylketonuria (or PKU) is a rare, inherited disorder that prevents children from breaking down certain amino acids in their bodies. This leads to toxic levels of phenylalanine and a …

Phenylalanine hydroxylase (PAH) deficiency is an inherited disease of variable severity. When untreated, the most severe form of PAH, called phenylketonuria (PKU), is characterized by …

Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can't process an amino acid called phenylalanine. Phenylalanine is in many common foods.

Jan 10, 2000 · Maternal PKU (MPKU) syndrome occurs in offspring of mothers with inadequately treated PAH deficiency during pregnancy and results from the toxic effects of elevated blood …

PKU is a condition that prevents your child's body from breaking down phenylalanine. Phenylalanine is a substance the body uses to make other proteins that are needed for normal …

Phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), presents in several types that vary in severity and manifestations. The classic form is characterized by a complete …

Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error …

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder where excess levels of phenylalanine (Phe) disrupt normal neurophysiology.