How many people in the US have Phenylketonuria (Adult Management)?

US prevalence estimate: No national adult PKU prevalence estimate is established by the newborn-incidence sources; U.S. newborn-screening frequency is ~0.59 per 10,000 births for classical PKU/hyperphenylalaninemia in 2015-2017 (CDC MMWR — Infants with Congenital Disorders Identified Through Newborn Screening, United States, 2015-2017).

Phenylketonuria (Adult Management)

Phenylketonuria (Adult Management) is indexed under Rare / Orphan Chronic, Inborn Errors of Metabolism. Also known as PKU adult.

US prevalence: No national adult PKU prevalence estimate is established by the newborn-incidence sources; U.S. newborn-screening frequency is ~0.59 per 10,000 births for classical PKU/hyperphenylalaninemia in 2015-2017 Source: CDC MMWR — Infants with Congenital Disorders Identified Through Newborn Screening, United States, 2015-2017. This figure comes from a professional society, registry, or study rather than a federal source. Label: REPORTED.
ICD-10-CM codes: E70.0
Typical onset: Lifelong management required; adult adherence is major challenge
Course: lifelong
Body systems: neurological
Sex differences: Equal; maternal PKU is critical concern
Racial and ethnic differences: See phenylketonuria entry

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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