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.

Aug 15, 2022 · 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).

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 …

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 .

Aug 8, 2023 · Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of phenylalanine (Phe) to generate tyrosine (Tyr).

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.

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 growth. Phenylalanine is found in many foods, such as meat, poultry, fish, eggs, milk, cheese, beans, nuts, and seeds.

Jun 28, 2023 · Classic PKU – the most severe form of the condition – results when PAH is missing, and mild or moderate forms of PKU occur when PAH levels are reduced. Signs and symptoms of PKU include Musty odor in breath, skin or …

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”).

Dec 5, 2024 · Phenylketonuria (PKU) is a genetic disorder affecting phenylalanine metabolism, causing its build-up in the body. Gain insights into early detection, treatments, dietary management, and latest research.