Tall stature and progressive overweight in mitochondrial encephalopathy

E. Morava, F. A. Hol, A. Janssen, J. Smeitink

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)720-722
Number of pages3
JournalJournal of inherited metabolic disease
Volume26
Issue number7
DOIs
StatePublished - Dec 1 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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