Glutathione synthetase deficiency

Preferred Label : Glutathione synthetase deficiency;

Symbol : GSSD;

CISMeF acronym : GSSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyroglutamic aciduria; 5-oxoprolinuria due to glutathione synthetase deficiency;

Description : Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).;

Inheritance : Autosomal recessive;

Prefixed ID : #266130;

Details

Origin ID

266130;

UMLS CUI

C5848078;

Currated CISMeF NLP mapping
- Deficiency of glutathione synthase (disorder) [SNOMED CT concept]
- Glutathione Synthetase Deficiency [NCIt concept]
- Glutathione synthase deficiency with 5-oxoprolinuria (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency [MedDRA Preferred Term]
- Glutathione synthetase deficiency [MeSH concept]
- Glutathione synthetase deficiency [ORDO Disease]
- Glutathione synthetase deficiency (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ICD-11 More detail]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
- Reduced glutathione synthetase level [HPO term]
- glutathione synthase deficiency with 5-oxoprolinuria [SNOMED Notion]
- glutathione synthetase deficiency [Disease (Nov.)]
- glutathione synthetase deficiency [DO Concept]
- glutathione synthetase deficiency [MeSH Supplementary Concept]
DO Cross reference
- glutathione synthetase deficiency [DO Concept]
Genes related to phenotype
- Glutathione synthetase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic metabolic acidosis [HPO term]
- Dysarthria [HPO term]
- Hemolytic anemia [HPO term]
- Increased hemolysis [HPO term]
- Increased level of L-pyroglutamic acid in urine [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Mild anemia [HPO term]
- Mild hemolytic anemia [HPO term]
- Neutropenia [HPO term]
- Peripheral retinal pigmentation abnormalities [HPO term]
- Pigmentary retinopathy [HPO term]
- Psychotic mentation [HPO term]
- Reduced glutathione synthetase level [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
ORDO concept(s)
- Glutathione synthetase deficiency [ORDO Disease]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
See also inter- (CISMeF)
- glutathione synthase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glutathione synthase (disorder) [SNOMED CT concept]
- Glutathione Synthetase Deficiency [NCIt concept]
- Glutathione synthase deficiency with 5-oxoprolinuria (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency [ORDO Disease]
- Glutathione synthetase deficiency [MeSH concept]
- Glutathione synthetase deficiency [MedDRA Preferred Term]
- Glutathione synthetase deficiency (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ICD-11 More detail]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
- Reduced glutathione synthetase level [HPO term]
- glutathione synthase deficiency with 5-oxoprolinuria [SNOMED Notion]
- glutathione synthetase deficiency [MeSH Supplementary Concept]
- glutathione synthetase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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