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 caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine.

Symptoms of untreated PKU include: Eczema. Skin and/or hair discoloration (lighter compared to other members of their family). Small head size (microcephaly). A musty odor to their breath, skin or urine. Severe symptoms of untreated PKU include: Behavioral problems. Developmental delays. Intellectual disabilities. Seizures (rare).

Melanin that provides pigment for skin and hair; Proteins that serve as building blocks for body development and other life-sustaining processes; PKU is on a spectrum meaning that it can range from mild PKU (called “hyperphenylalaninemia”) to severe (called “classic PKU”).

Nov 17, 2024 · Learn about phenylalanine (Phe): its role in protein synthesis, connection to phenylketonuria (PKU), and the PKU test.

Jul 1, 2014 · Fair-haired PKU mice started to darken after gene transfer and eventually became indistinguishable from wild-type. Changes from brown to black hair persisted from then on in minicircle vector–treated mice.

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. [3] . Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. [1][7] It may also result in …

Jul 30, 2024 · Untreated infants with PKU tend to have unusually light eye, skin, and hair color due to high phenylalanine levels interfering with production of melanin, a substance that causes pigmentation. They may also have a musty or “mousy” body odor caused by phenyl acetic acid in the urine or sweat.

Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of …

Light skin and hair, seizures, developmental delays, behavioral problems, and psychiatric disorders are also common. Less severe forms, sometimes called "mild PKU", "variant PKU" and "non-PKU hyperphenylalaninemia", have a smaller risk of brain damage.

Pale pigmentation develops in hair and skin, and seizures are sometimes present. Phenylalanine accumulates within the first days of life and tyrosine levels tend to be low. Although various phenylalanine metabolites are present, phenylalanine itself appears to be the toxic molecule in …