Barth Syndrome

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Yang, C. Barth Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4931 (accessed on 25 September 2026).

Yang C. Barth Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4931. Accessed September 25, 2026.

Yang, Catherine. "Barth Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4931 (accessed September 25, 2026).

Yang, C. (2020, December 24). Barth Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4931

Yang, Catherine. "Barth Syndrome." Encyclopedia. Web. 24 December, 2020.

Barth Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/barth-syndrome

Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males.

genetic conditions

References

Aprikyan AA, Khuchua Z. Advances in the understanding of Barth syndrome. Br J Haematol. 2013 May;161(3):330-8. doi: 10.1111/bjh.12271.Review.
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, MartinRP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK,Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. Review.
Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R. Dysmorphology of Barth syndrome. Clin Dysmorphol. 2009 Oct;18(4):185-7. doi:10.1097/MCD.0b013e32832a9e62.
Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet. 2013Aug;163C(3):198-205. doi: 10.1002/ajmg.c.31372.
Mazzocco MM, Henry AE, Kelly RI. Barth syndrome is associated with a cognitivephenotype. J Dev Behav Pediatr. 2007 Feb;28(1):22-30.
Rigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H,Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant MC,Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J. Natural history of Barth syndrome: a national cohort study of 22 patients.Orphanet J Rare Dis. 2013 May 8;8:70. doi: 10.1186/1750-1172-8-70.
Vernon HJ, Sandlers Y, McClellan R, Kelley RI. Clinical laboratory studies in Barth Syndrome. Mol Genet Metab. 2014 Jun;112(2):143-7. doi:10.1016/j.ymgme.2014.03.007.
Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E,Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria asdiscriminative feature: proper classification and nomenclature. J Inherit MetabDis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0.Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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