Details of Disease | DrugMAP

General Information of Disease (ID: DISVQEGM)

Disease Name	Inherited glutathione synthetase deficiency
Synonyms	oxoprolinase deficiency; inborn glutathione synthase activity disorder; 5-oxoprolinuria; GSSD; pyroglutamic aciduria; inherited glutathione synthetase deficiency; inborn error of glutathione synthase activity; glutathione synthetase deficiency; pyroglutamicaciduria; rare inborn error of glutathione synthase activity
Definition	Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
Disease Hierarchy	DISHJT9E: Inherited glutathione metabolism disease DISO5FAY: Inborn error of metabolism DIS30VAM: Defective phagocytic cell engulfment DISVQEGM: Inherited glutathione synthetase deficiency

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GSS	TTVEWR4	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GSS	OTVSBEIW	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.