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Metadata
ID	DOID:0081034
Name	glutatione synthetase deficiency with 5-oxoprolinuria
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/
Xrefs	MIM:266130 ORDO:32
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal recessive disease is_a glutathione synthetase deficiency
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance existence starts during some Neonatal onset