Glutamate-cysteine ligase deficiency

disorder

SNOMED 36799008CUI C0268523

Overview

Glutamate-cysteine ligase 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.

Hemolytic anaemia

Always present (100%)HP:0001878

Increased levels of animo acids in urine

Very frequent (80-99%)HP:0003355

Myopathy

Very frequent (80-99%)HP:0003198

Neuropathy

Very frequent (80-99%)HP:0009830

Spinocerebellar tract degeneration

Very frequent (80-99%)HP:0002503

Ataxia

Occasional (5-29%)HP:0001251

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Dull intelligence

Occasional (5-29%)HP:0001249

Dyslexia

Occasional (5-29%)HP:0010522

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

Increased reflexes

Occasional (5-29%)HP:0001347

Mental and motor retardation

Occasional (5-29%)HP:0001263

Psychosis

Occasional (5-29%)HP:0000709

Reticulocytosis

Occasional (5-29%)HP:0001923

Yellowing of the skin

Occasional (5-29%)HP:0000952

Related Conditions

Disorder of the gamma-glutamyl cycle(parent)

Recessive hereditary disorder (autosomal)(parent)

Specific enzyme deficiency(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 36799008
UMLS CUI: C0268523
Fully Specified Name: Glutamate-cysteine ligase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.