May 13, 2022 · A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body; Nervous system (neurological) problems that may include seizures; Skin rashes, such …

Sep 17, 2020 · Among its symptoms, people with PKU often experience skin problems such as rashes and sensitivity to light. How does PKU affect the skin? Mutations in the PAH gene …

Phenylketonuria is a genetic condition where levels of phenylalanine build up in your body. If left untreated, phenylketonuria can affect a person’s cognitive development. Treatment with …

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, …

Dec 21, 2023 · If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. Other symptoms include: Behavioral 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 …

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 …

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, …

Apr 6, 2025 · PKU is caused by a defect in the gene that makes the enzyme needed to break down phenylalanine. The enzyme that breaks down phenylalanine may be present only in …

Sep 20, 2018 · Skin findings in PKU are as follows: Hypopigmented skin and hair [ 1 , 3 ] : The inability to metabolize phenylalanine leads to low tyrosine levels and inhbition of the tyrosinase …