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What is Overview of Phenylketonuria (PKU) about?

Phenylketonuria (PKU) is an inherited disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which leads to an accumulation of the amino acid phenylalanine. Untreated, it can cause intellectual disability, seizures, behavioral problems, and eczema. It is diagnosed through newborn screening and managed through a lifelong low-phenylalanine diet and medical foods to supplement other nutrients. With early treatment and strict dietary control, people with PKU can have a normal IQ and developmen

Author

Asfoor gake1

Language

EN