Tall stature and progressive overweight in mitochondrial encephalopathy

J Inherit Metab Dis. 2003;26(7):720-2. doi: 10.1023/b:boli.0000005647.71704.25.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Aging / physiology
  • Body Height / genetics
  • Body Height / physiology*
  • Child
  • DNA, Mitochondrial / genetics
  • Female
  • Growth / genetics
  • Growth / physiology
  • Humans
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / pathology*
  • Mitochondrial Encephalomyopathies / psychology
  • Obesity / etiology
  • Obesity / genetics
  • Obesity / physiopathology*
  • Point Mutation / genetics


  • DNA, Mitochondrial