Phenylalanine hydroxylase

Phenylalanine hydroxylase (pronounced: fen-ill-al-uh-neen hi-drok-si-leys, /ˌfɛnɪlˈæləˌniːn haɪˈdrɒksɪˌleɪs/) is an enzyme that is encoded by the PAH gene in humans. It is involved in the metabolic breakdown of the amino acid phenylalanine, converting it into tyrosine.

Etymology

The term "Phenylalanine hydroxylase" is derived from the name of the amino acid it acts upon, phenylalanine, and the type of reaction it catalyzes, a hydroxylation. "Phenylalanine" is a compound word from "phenyl", a chemical term derived from the French "phène", itself from Greek "phainein" meaning "to show", and "alanine", an amino acid named after "aldehyde", from which it was first synthesized.

Function

Phenylalanine hydroxylase is primarily found in the liver and kidney. It is a monooxygenase that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine. This is a critical step in the phenylalanine metabolism pathway, which is essential for the synthesis of proteins and certain neurotransmitters.

Clinical significance

Deficiency of phenylalanine hydroxylase leads to Phenylketonuria (PKU), a genetic disorder that results in an inability to metabolize phenylalanine. This can lead to intellectual disability, seizures, behavioral problems, and mental disorders if not treated early.

Related terms

• Phenylketonuria
• Amino acid
• Enzyme
• Metabolism
• PAH gene
• Phenylalanine
• Tyrosine

External links

• Medical encyclopedia article on Phenylalanine hydroxylase
• Wikipedia's article - Phenylalanine hydroxylase

This WikiMD dictionary article is a stub. You can help make it a full article.

---

Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski