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Barth syndrome
Summary
- Synonym
-
- 3-methylglutaconicaciduria type 2
- 3-methylglutaconicaciduria type II
- MGA Type 2
- MGA type II
- Definition
- A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
- Super Class
- 3-methylglutaconic aciduria X-linked recessive disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75882 | Attractin | |
| P40939 | Trifunctional enzyme subunit alpha, mitochondrial | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 |
