Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy

We describe two children carrying an inherited T899C mutation in the mitochondrial ATPase 6 gene with mild encephalopathy and normal postnatal growth followed by tall stature and obesity. No familial tall stature, endocrine anomaly or advanced skeletal age were present. Failure to thrive is a charac...

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Published in:Journal of inherited metabolic disease 2003-10, Vol.26 (7), p.720-722
Main Authors: Morava, E., Hol, F. A., Janssen, A., Smeitink, J.
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Language:English
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description We describe two children carrying an inherited T899C mutation in the mitochondrial ATPase 6 gene with mild encephalopathy and normal postnatal growth followed by tall stature and obesity. No familial tall stature, endocrine anomaly or advanced skeletal age were present. Failure to thrive is a characteristic finding in most patients with a mitochondrial disease. Our observations suggest that children with encephalomyopathy, even in the presence of a significant clinical overgrowth, should be screened for a possible defect in oxidative phosphorylation.
doi_str_mv 10.1023/B:BOLI.0000005647.71704.25
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title Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy
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