Category: Endocrine & Metabolic / Disorders of Amino Acid Metabolism
Phenylketonuria (PKU) is a rare inherited metabolic disorder where the body cannot properly break down phenylalanine, an amino acid, leading to its buildup in the blood and brain, causing severe neurological damage if untreated.
Estimated at 1 in 10,000 to 1 in 15,000 newborns worldwide (source: National PKU Alliance).
Discover the latest clinical trials and treatments for Phenylketonuria on JourneyForHealth.
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