Tall stature and progressive overweight in mitochondrial encephalopathy.
SourceJournal of Inherited Metabolic Disease, 26, 7, (2003), pp. 720-2
Article / Letter to editor
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Paediatrics - OUD tm 2017
Journal of Inherited Metabolic Disease
SubjectUMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism
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.
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