Hepatic methionine adenosyltransferase deficiency

disorder

SNOMED 57835009CUI C0268621

Overview

Hepatic methionine adenosyltransferase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Nonprogressive mental retardation

Occasional (5-29%)HP:0001249

Demyelination in central white matter

HP:0007305

Dystonic movements

HP:0001332

Foetor ex ore

HP:0100812

Increased methionine in blood

HP:0003235

Increased reflexes

HP:0001347

Peripheral demyelination

HP:0011096

Related Conditions

Enzymopathy(parent)

Hypermethioninemia(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 57835009
UMLS CUI: C0268621
Fully Specified Name: Hepatic methionine adenosyltransferase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.