Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of immune system physiology
Very frequent (80-99%)HP:0010978
Brain and/or spinal cord issue
Very frequent (80-99%)HP:0000707
Chronic metabolic acidosis
Very frequent (80-99%)HP:0001996
Elevated urine 5-oxoproline
Very frequent (80-99%)HP:0410132
Glutathione synthetase deficiency
Very frequent (80-99%)HP:0003343
Hemolytic anaemia
Very frequent (80-99%)HP:0001878
Reduced erythrocyte glutathione concentration
Very frequent (80-99%)HP:0034738
Epilepsy
Frequent (30-79%)HP:0001250
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Prone to bacterial infection
Frequent (30-79%)HP:0002718
Yellowing of the skin
Frequent (30-79%)HP:0000952
Ataxia
Occasional (5-29%)HP:0001251
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Related Conditions
Erythrocyte glutathione synthase deficiency(child)
Glutathione synthase deficiency with 5-oxoprolinuria(child)
Defective phagocytic cell killing(parent)
Qualitative abnormality of granulocyte(parent)
Disorder of immune structure(parent)
Hereditary hemolytic anemia(parent)
Hereditary white blood cell disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Disorder of the gamma-glutamyl cycle(parent)
Quick Facts
- SNOMED CT
- 234589002
- UMLS CUI
- C5979912
- Fully Specified Name
- Glutathione synthetase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.