4-Hydroxyphenylpyruvate dioxygenase deficiency

disorder

SNOMED 413356003CUI C0268623

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

4-hydroxyphenylacetic aciduria

Always present (100%)HP:0003607

4-Hydroxyphenylpyruvic aciduria

Always present (100%)HP:0003161

Hypertyrosinemia

Always present (100%)HP:0003231

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental retardation, mild

Occasional (5-29%)HP:0001256

Mental retardation, severe

Occasional (5-29%)HP:0010864

Elevated serum transaminases

Excluded (<1%)HP:0002910

Seizures

Excluded (<1%)HP:0001250

Related Conditions

Tyrosinemia type III(child)

Hawkinsinuria(child)

Disturbance of tyrosine metabolism(parent)

Enzymopathy(parent)

Quick Facts

SNOMED CT: 413356003
UMLS CUI: C0268623
Fully Specified Name: 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.