phenylketonuria
ICD-10: E70.0MeSH: D010661ORPHA: 716
Overview
amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with phenylketonuria, sourced from HPO and Orphanet clinical annotations.
PhenylalaninuriaMicrocephalyAtypical behaviorOsteopeniaEczematoid dermatitisHypopigmentation of the skinSeizureGlobal developmental delaySpecific learning disabilityGrowth delayEEG abnormalityAbnormal cerebral white matter morphologyHyperphenylalaninemiaSevere intellectual disabilityMusty odorDepressionDementiaShort attention spanAnxietyAtaxiaEncephalopathyTremorLower limb spasticityAbnormal cardiovascular system morphologyCerebral visual impairment
Classification & Codes
ICD-10 Code
E70.0MeSH Code
D010661Orphanet Code
ORPHA:716phenylketonuria
| ICD-10 | E70.0 |
| MeSH | D010661 |
| Orphanet | ORPHA:716 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO