Tall stature and progressive overweight in mitochondrial encephalopathy

Eva Morava-Kozicz, F. A. Hol, A. Janssen, J. Smeitink

Research output: Contribution to journalArticle

4 Citations (Scopus)

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
Externally publishedYes

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Mitochondrial Diseases
Failure to Thrive
Oxidative Phosphorylation
Brain Diseases
Adenosine Triphosphatases
Obesity
Mutation
Growth
Genes
Mitochondrial encephalopathy

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

Cite this

Tall stature and progressive overweight in mitochondrial encephalopathy. / Morava-Kozicz, Eva; Hol, F. A.; Janssen, A.; Smeitink, J.

In: Journal of Inherited Metabolic Disease, Vol. 26, No. 7, 01.12.2003, p. 720-722.

Research output: Contribution to journalArticle

Morava-Kozicz, Eva ; Hol, F. A. ; Janssen, A. ; Smeitink, J. / Tall stature and progressive overweight in mitochondrial encephalopathy. In: Journal of Inherited Metabolic Disease. 2003 ; Vol. 26, No. 7. pp. 720-722.
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