# Phenylketonuria (PKU)

**IRI:** https://folio.openlegalstandard.org/RjkNX8mCEMI552iA5M6SQ7

## Labels

**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.

## Sub Class Of

- https://folio.openlegalstandard.org/R8LxIR1bsgFd3td2G24G3mq

**Deprecated:** False