Barth syndrome


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Barth syndrome

(barth), [MIM*302060]
an X-linked syndrome characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.

Barth syndrome

A rarely reported but underdiagnosed X-linked disorder characterised by cardiomyopathy, neutropenia, muscle hypoplasia, weakness, exercise intolerance, growth delay, cardiolipin defects and 3-methylglutaconic aciduria.

Barth syn·drome

(bahrt sin'drōm)
An X-linked syndrome characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.
References in periodicals archive ?
For more information about the Barth Syndrome Foundation, visit www.
Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography.
Characterization of lymphoblast mitochondria from patients with Barth syndrome.
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
Phospholipid abnormalities in children with Barth syndrome.
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.
Mitochondrial respiratory chain supercomplexes are destabilized in Barth syndrome patients.
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth syndrome.