ZFIN Human Disease: glutatione synthetase deficiency with 5-oxoprolinuria

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:	OMIM:266130 ORDO:32
Ontology:	Human Disease ( DOID:0081034 )

Relationships

is a type of:	autosomal recessive disease glutathione synthetase deficiency autosomal recessive disease glutathione synthetase deficiency Show first 5 Terms

OTHER glutatione synthetase deficiency with 5-oxoprolinuria PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GSS	gss	Glutathione synthetase deficiency	266130

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None