Phenylketonuria (PKU)

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https://folio.openlegalstandard.org/RjkNX8mCEMI552iA5M6SQ7

Preferred Label Phenylalanine Hydroxylase Deficiency

Alternative Labels

PKU

Definition

Phenylketonuria (PKU) is a genetic disorder characterized by the inability to metabolize phenylalanine, an amino acid, due to a deficiency in the enzyme phenylalanine hydroxylase (PAH). This leads to an accumulation of phenylalanine in the blood and brain, which can result in severe neurological and developmental issues.

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Parent(s)

• Congenital Disorders that Affect Multiple Body Systems

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