About this document
Understanding Phenylketonuria (PKU) by Ayushi kushwaha is a document available to read on EtoBox.
Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation in the PAH gene, leading to a deficiency in the enzyme phenylalanine hydroxylase, resulting in phenylalanine buildup. Symptoms include intellectual disability and seizures if untreated, with diagnosis typically performed through newborn screening. Management involves a strict low-phenylalanine diet and may include special formulas and medications, allowing for normal development with early intervention.
- Author
- Ayushi kushwaha
- Language
- EN