Phenylketonuria (PKU) - FOLIO Ontology

Identification

IRI:

https://folio.openlegalstandard.org/RjkNX8mCEMI552iA5M6SQ7

Label Phenylketonuria (PKU)

Preferred Label Phenylalanine Hydroxylase Deficiency

Identifier N/A

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.

Class Relationships

Sub Class Of

• Congenital Disorders that Affect Multiple Body Systems

Is Defined By

N/A

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Additional Information

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Editorial Information

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