Preferred Label : Glutathione synthetase deficiency;
Symbol : GSSD;
CISMeF acronym : GSSD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Pyroglutamic aciduria; 5-OXOPROLINURIA;
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;
Origin ID : 266130;
UMLS CUI : C0398746;
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)