Tip 74: phenylketonuria (PKU)

PKU is caused by mutation to the phenylalanine hydroxlase (PAH) gene on chromosome 12q. It has autosomal inheritance. Incidence is ~1:10,000 – 1:15,000 (USA).

Early and life-long treatment with a low phenylalanine diet prevents serious outcomes (intellectual disability, seizures). Temporary non-adherance to the diet leads to behavioural changes, which may appear like ADHD.

References: Genetics Home Reference. Phenylketonuria. Available online at: http://ghr.nlm.nih.gov/condition/phenylketonuria


The National Society for Phenylketonuria

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