Barth syndrome without 3-methylglutaconic aciduria.
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.


CONCLUSIONS
A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.
Schmidt
M Rahbek
MR
Department of Pediatrics, Aarhus University Hospital, Skejby Sygehus, Aarhus, Denmark. Rahbek@dadlnet.dk
Birkebaek
N
N
Gonzalez
I
I
Sunde
L
L
D001120:Arginine / Q000235:genetics; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D041321:Chromosomes, Human, X; D017809:Fatal Outcome; D005977:Glutarates; D005998:Glycine / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome
D005977:Glutarates; C022034:3-methylglutaconic acid; D001120:Arginine; D005998:Glycine