Phenylketonuria

Phenylketonuria is indexed under Metabolic & Endocrine, Inborn Errors of Metabolism. Also known as PKU.

US prevalence

~0.59 cases per 10,000 U.S. births for classical PKU and hyperphenylalaninemia in newborn-screening programs, 2015-2017 (~223 expected cases/year); older NIH sources cite roughly 1 in 10,000-15,000 births depending on definition and period Source: CDC MMWR — Infants with Congenital Disorders Identified Through Newborn Screening, United States, 2015-2017. Federal source. Label: VERIFIED.

ICD-10-CM codes

E70.0, E70.1

Typical onset

Detected at birth via newborn screening

Course

lifelong

Body systems

neurological, endocrine

Sex differences

Equal (autosomal recessive)

Racial and ethnic differences

More common in populations of European descent; less common in Black, Hispanic, and Asian populations

What this page does not establish

These figures describe populations, not individuals, and none of them is a diagnosis or a treatment recommendation. Prevalence estimates are approximate and reflect published ranges. Disparity figures are reported patterns, not causes.

Taxonomy last reviewed 2026-05-19. Each figure on the interactive page carries its own source and retrieval date, which can be later than this review.

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