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glutathione synthetase deficiency with 5-oxoprolinuria | RareConnect | RareConnect.io

/inherited glutathione synthetase deficiency

/glutathione synthetase deficiency with 5-oxoprolinuria

glutathione synthetase deficiency with 5-oxoprolinuria

Rare Disease

MONDO:0009947

Also Known As

5-oxoprolinuriaGSSDglutathione synthetase deficiencypyroglutamic aciduria

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:266130 ↗

Orphanet

Orphanet:289846 ↗

GARD

Related Diseases

glutathione synthetase deficiency without 5-oxoprolinuria

MONDO:0009284

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