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 ?
We are studying elamipretide in the following primary mitochondrial diseases: primary mitochondrial myopathy, Barth syndrome and Leber's hereditary optic neuropathy.
TAZPOWER was a Phase 2/3 crossover study of elamipretide in 12 patients with Barth syndrome followed by an open-label extension in which 10 of the 12 patients participated.
Barth syndrome is caused by mutations in the tafazzin (TAZ) gene, which encodes a group of proteins called tafazzins.
Disease Gene Protein Mutation Arrhythmogenic right PKP2 Plakophilin 2 c.2484C>T ventricular dysplasia PKP2 Plakophilin 2 c.2013delC (ARVD) Arrhythmogenic right PKP2 Plakophilin 2 c.972InsT/N ventricular dysplasia (ARVD) Arrhythmogenic right PKP2 Plakophilin 2 c.1841T>C ventricular dysplasia (p.L614P) (ARVD) Dilated cardiomyopathy DES Desmin c.940C>T (p.A285V) Barth syndrome TAZ1 Tafazzin c.590G>T, (dilated cardiomyopathy) p.
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.
"In die case of the cells grown out of patients with Barth syndrome, wc saw much weaker contractions and irregular tissue assembly.
This work was supported by grants from the Barth Syndrome Foundation and the American Heart Association 11SDG7400019.
Fragmented mitochondria are associated with cardiomyopathy and Barth syndrome, showing the relevance of CL and PE role in the mitochondrial fusion.
Elamipretide has also been granted Fast Track designation for the treatment of primary mitochondrial myopathy, Barth syndrome and Leber's hereditary optic neuropathy, three rare primary mitochondrial diseases.
The company is investigating its lead product candidate elamipretide in three primary mitochondrial diseases, primary mitochondrial myopathy, Barth syndrome and Leber's hereditary optic neuropathy, for which it has both Fast Track and Orphan Drug designations.
Barth syndrome (BTHS) [4] is a life-threatening X-linked, metabolic, multisystem disorder (MIM 302060).
Elamipretide has also been granted Orphan Drug Designation for the treatment of primary mitochondrial myopathy and Barth syndrome, two other rare primary mitochondrial diseases.