Review of French Cases of Glutathione Synthetase Deficiency

University Hospital, Strasbourg, France

Status: Unknown

Conditions: The Glutathione Synthetase Deficiency

Study type: Observational

Funder types: Other

Identifiers

NCT02830867

6245

Details and patient eligibility

About

The glutathione synthetase deficiency, inborn error of metabolism of autosomal recessive inheritance, is a rare disease (70 patients described in the world). The outcome of these patients and potential complications of this disease are not, to date, yet all known and described.

Enrollment: 100 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• All patients followed in the French hospital centers the diagnosis of glutathione synthetase deficiency has been proven by assay of residual enzyme activity or identifying a mutation of the glutathione synthetase gene

Exclusion criteria

• No formal proof of glutathione synthetase deficiency