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 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.
Morava
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Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, UMC Nijmegen, The Netherlands. e.morava@cukz.umcn.nl
Hol
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Janssen
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Smeitink
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J
D000293:Adolescent; D000375:Aging / Q000502:physiology; D001827:Body Height / Q000235:genetics / Q000502:physiology*; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006128:Growth / Q000235:genetics / Q000502:physiology; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000473:pathology* / Q000523:psychology; D009765:Obesity / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D017354:Point Mutation / Q000235:genetics
D004272:DNA, Mitochondrial