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 ?
Based on encouraging preclinical and early clinical data, the company is investigating its lead product candidate, elamipretide, in three primary mitochondrial diseases: PMM, Barth syndrome, and Leber's hereditary optic neuropathy, as well as in heart failure and dry age-related macular degeneration.
This US FDA's FTD follows the company's TAZPOWER, a Phase 2/3, randomised, double-blind, placebo-controlled crossover study that will evaluate the effects of daily treatment with elamipretide in patients with genetically confirmed Barth syndrome.
Barth syndrome is a rare genetic mitochondrial disease, caused by mutations in the TAZ gene.
Barth syndrome is caused by mutations in the tafazzin (TAZ) gene, which encodes a group of proteins called tafazzins.
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies," Nature Medicine, vol.
Kate and Sandt Michener lost their first son, Rhys, to Barth Syndrome when he died very unexpectedly of dilated cardiomyopathy on 10 February 2011 at the age of 6 months.
The event at Neill's Taekwondo and Fitness, located at 1706 East Franklin Street Chapel Hill, NC 27514, is open to all with a suggested minimum donation to the Barth Syndrome Foundation of $5.
The engineered diseased tissue contracted very weakly, as would the heart muscle seen in Barth syndrome patients.
Grant/funding Support: The research was supported by a grant of the Barth Syndrome Foundation to W.
Newton, Massachusetts-based clinical-stage biopharmaceutical company Stealth BioTherapeutics has received Fast Track designation from US Food and Drug Administration for its lead candidate, elamipretide, for the treatment of Barth syndrome, the company said.