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...

Full description

Saved in:
Bibliographic Details
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.
Format: Article
Language:English
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1023/B:BOLI.0000005647.71704.25