Barth syndrome
Sign in to saveAlso known as 3-methylglutaconicaciduria type 2, 3-methylglutaconicaciduria type II, MGA Type 2, MGA type II, Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria, Cardioskeletal myopathy-neutropenia syndrome, MGA2
lipid metabolism disorder 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
Research
1,071 papers- Barth Syndrome Cardiomyopathy: An Update.Genes · 2022
- Barth syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2013
- Barth Syndrome.1993
- Experimental models of Barth syndrome.Journal of inherited metabolic disease · 2022
- Barth syndrome.Orphanet journal of rare diseases · 2013
via PubMed
Wikidata facts
- Image
- Barth syndrome consistent facial features of boys (Orphanet Journal of Rare Diseases Clarke et al).jpg
Show 6 more facts
- health specialty
- endocrinology
- NCI Thesaurus ID
- C84585
- Commons category
- Barth syndrome
- exact match
- www.orpha.net/ORDO/Orphanet_111
- on focus list of Wikimedia project
- WikiProject Medicine
- symptoms and signs
- sensorineural hearing loss
Sources (6)
via Wikidata · CC0