Barth Syndrome (BTHS)

Alias:

3-Methylglutaconic Aciduria Type 2

Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria

Bths

Mga2

Mga Type Ii

X-Linked Cardioskeletal Myopathy and Neutropenia

Cardioskeletal Myopathy-Neutropenia Syndrome

Cardioskeletal Myopathy-Neutropenia

Mga Type 2

Mgca2

Non-Compaction of Left Ventricular Myocardium Isolated X-Linked

Left Ventricular Non-Compaction Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

3-Alpha-Methylglutaconic Aciduria Type 2

3-Methylglutaconic Aciduria, Type Ii

3 Methylglutaconic Aciduria, Type Ii

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconicaciduria Type Ii

3-Methylglutaconicaciduria Type 2

Dnajc19 Defect

Mga, Type Ii

Agm2

Invm

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Barth Syndrome, also known as 3-methylglutaconic aciduria type 2, is related to endocardial fibroelastosis and myopathy, and has symptoms including fatigue and proximal weakness. An important gene associated with Barth Syndrome is TAFAZZIN (Tafazzin, Phospholipid-Lysophospholipid Transacylase). The drug Pyruvate has been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are dilated cardiomyopathy and abnormality of neutrophils

Related ID：

MALACARDS：BRT005

OMIM：302060

MESH：D056889