FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term glutatione synthetase deficiency with 5-oxoprolinuria ID (Ontology) DOID:0081034 (Human Disease)
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.
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 glutatione synthetase deficiency with 5-oxoprolinuria       2
 for disease ribbon | glutatione synthetase deficiency with 5-oxoprolinuria       2
 model of | glutatione synthetase deficiency with 5-oxoprolinuria       2
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autosomal genetic disease
 |__autosomal recessive disease________
amino acid metabolic disorder          |
 |__glutathione synthetase deficiency__|
                                       glutatione synthetase deficiency with 5-oxoprolinuria  2 rec.
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Is a autosomal recessive disease
glutathione synthetase deficiency
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MIM:266130
ORDO:32