Likely inborn error of metabolism - targeted testing not possible
Gene: GSS
More than 3 cases reported - the variant type may determine the severity of the phenotype (PMID: 15717202). This gene is linked to Glutathione synthetase deficiency with 5-oxoprolinuria and Glutathione synthetase deficiency without 5-oxoprolinuria in Orphanet. Added the 'treatable' tag due to information from PMID:15990954 vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis.Created: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Glutathione synthetase (GSS) deficiency; Pyroglutamic aciduria; 5-oxoprolinuria; Fanconi nephropathy; Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900
Publications
Source NHS GMS was added to GSS. Source London North GLH was added to GSS.
Ellen McDonagh: Comment on mode of pathogenici
gene: GSS was added gene: GSS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 27604308 Phenotypes for gene: GSS were set to Glutathione synthetase (GSS) deficiency; Glutathione synthetase deficiency 266130; Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Pyroglutamic aciduria; 5-oxoprolinuria; Hemolytic anemia due to glutathione synthetase deficiency 231900; Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle); Fanconi nephropathy