Glutathione synthase deficiency with 5-oxoprolinuria

disorder

SNOMED 39112005CUI C5848078

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.

Ataxia

HP:0001251

Cerebellar tremor

HP:0002080

Chronic metabolic acidosis

HP:0001996

Difficulty articulating speech

HP:0001260

Elevated urine 5-oxoproline

HP:0410132

Epilepsy

HP:0001250

Glutathione synthetase deficiency

HP:0003343

Hemolytic anaemia

HP:0001878

Mental deficiency

HP:0001249

Neutropoenia

HP:0001875

Psychotic mentation

HP:0001345

Retinal pigmentary degeneration

HP:0000580

Spastic tetraparesis

HP:0001285

Related Conditions

Glutathione synthetase deficiency(parent)

Quick Facts

SNOMED CT: 39112005
UMLS CUI: C5848078
Fully Specified Name: Glutathione synthase deficiency with 5-oxoprolinuria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.