Barth syndrome with neurological involvement

Also known as: Barth syndrome

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

Medical specialty: Neurology
Subspecialty: Pediatrics / Metabolic disease; Neurology overlap
Sex & age distribution: Male: affected, nearly all patients; Female: carriers usually unaffected; Children: yes, infancy
Gene(s) involved: TAFAZZIN

Etiology & mechanism

Tafazzin deficiency alters cardiolipin.

Gene(s) involved (1)

TAFAZZIN

Symptoms & signs (5)

3-methylglutaconic aciduriacardiomyopathygrowth delayneutropeniaskeletal myopathy

Note

Primarily not neurologic; verify

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