BARTH SYNDROME - CLINICAL OBSERVATIONS AND GENETIC-LINKAGE STUDIES

Barth syndrome is an X-linked recessive condition characterized by ske letal myopathy, cardiomyopathy, proportionate short stature, and recur rent neutropenia, but with normal cognitive function. Some, but not al l patients, exhibit carnitine deficiency and/or the presence of 3-meth ylglutaconic and ethylhydracylic acids in urine. Recently the mutation causing Barth syndrome was localised to the Xq28 region by linkage an alysis. We report 6 cases of Barth syndrome from 4 families and highli ght the fact that neuromuscular and cardiovascular symptoms and the se verity of infections tend to improve with age, while short stature per sists. Also previously unreported was myopathic facies and nasal quali ty to speech in our cases. The urinary organic acid abnormalities and plasma carnitine deficiency were inconsistent findings. We propose tha t they may be epiphenomena rather than indicators of the primary metab olic defect, and that the primary defect or defects in this disorder m ay lie in the mitochondrial electron transport chain. (C) 1994 Wiley-L iss, Inc.