The authors report a 6 yr old boy with Barth syndrome who presented with 
cardiomyopathy, neutropenia and hypotonia. Urine gas chromatography showed high 
level of 3-methylglutaconic acid. The DNA of both the patient and the mother 
showed a heterozygous 3 bp deletion in exon 8 of the tafazzin gene. This 
abnormality involves the deletion of the bases TGA starting at cDNA nucleotide 
891 (c891_893delTGA), resulting in the absence of glutamic acid at codon 202 
from a highly conserved area of the tafazzin protein, consistent with the 
diagnosis of Barth syndrome. This is the first case report of Barth syndrome in 
Arab population emphasizing the importance of detailed investigations in cases 
of hereditary cardiomyopathy.