OBO ID: DOID:0081034
Term Name: glutatione synthetase deficiency with 5-oxoprolinuria Search Ontology:
Synonyms:
Definition: A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. https://pubmed.ncbi.nlm.nih.gov/15990954/
References:
Ontology: Human Disease   (DOID:0081034)
OTHER glutatione synthetase deficiency with 5-oxoprolinuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GSS Glutathione synthetase deficiency 266130
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None