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Disease

Phenylketonuria (PKU)

PAH-related phenylalanine hydroxylase deficiency

Usually caused by PAH variants that impair conversion of phenylalanine to tyrosine.

MEDLINEPLUS GENETICS IDENTIFIERPhenylketonuria (PKU)View source record ↗

Overview

EXPLORE BY LEVEL

Phenylalanine is an in food and proteins. The PAH normally helps convert it to tyrosine. In PKU, reduced PAH activity can cause phenylalanine to build up, so early screening and ongoing clinical care matter.

Quick Facts

AT A GLANCE
Associated genesPAH

Follow the Connections

See how Phenylketonuria (PKU) links to other biological records.

Open network
GenePAHassociated withPathwayPhenylalanine Metabolisminvolves
All 3 Structured Connections
PAH · GeneASSOCIATED WITH →Phenylketonuria (PKU) · Disease
Phenylketonuria (PKU) · DiseaseINVOLVES →Phenylalanine Metabolism · Pathway
Phenylketonuria (PKU) · DiseaseINVOLVES →Phenylalanine Metabolism · Pathway

Recommended Reading

Trusted references for learning more about Phenylketonuria (PKU).

databasePhenylketonuriaMedlinePlus Genetics
Research Claims

Classic PAH deficiency is an autosomal recessive disorder; biochemical severity, genotype, cofactor metabolism, and treatment response vary. The dedicated phenylalanine route is a future structured pathway and is not conflated with branched-chain amino-acid catabolism.