Barth syndrome without 3-methylglutaconic aciduria.
作者信息
Schmidt M Rahbek, Birkebaek N, Gonzalez I, Sunde L
机构信息
Department of Pediatrics, Aarhus University Hospital, Skejby Sygehus, Aarhus, Denmark.
出版信息
Acta Paediatr. 2004 Mar;93(3):419-21. doi: 10.1080/08035250410022837.
PMID:15124852
Abstract
UNLABELLED
Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion.
CONCLUSION
A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.
摘要
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