Barth syndrome

Also known as: 3-methylglutaconic aciduria type II

X-linked disorder with cardiomyopathy, neutropenia and skeletal myopathy.

Medical specialty: Cardiology
Subspecialty: Cardiology / Metabolic cardiomyopathy
Sex & age distribution: Male: affected; Female: carriers unaffected; Children: yes, infancy
Gene(s) involved: TAFAZZIN

Etiology & mechanism

TAZ deficiency causes abnormal cardiolipin remodeling and mitochondrial dysfunction.

Gene(s) involved (1)

TAFAZZIN

Symptoms & signs (8)

dilated cardiomyopathyelevated 3-methylglutaconic acidfatiguegrowth delayleft ventricular noncompactionneutropeniarecurrent infectionsskeletal myopathy

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.