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Tall stature and progressive overweight in mitochondrial encephalopathy
1Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, UMC Nijmegen, The Netherlands. e.morava@cukz.umcn.nl
Insights
Mitochondrial ATPase 6 gene mutations can cause mild encephalomyopathy with unusual tall stature and obesity. Early screening for oxidative phosphorylation defects is recommended, even with overgrowth, in children with encephalomyopathy.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Mitochondrial diseases often present with failure to thrive.
- Oxidative phosphorylation defects impact cellular energy production.
- Mitochondrial ATPase 6 gene mutations are linked to various neurological disorders.
Observation:
- Two children with a T899C mutation in the mitochondrial ATPase 6 gene exhibited mild encephalopathy.
- Postnatal growth was initially normal, followed by the development of tall stature and obesity.
- No history of familial tall stature, endocrine issues, or advanced skeletal age was noted.
Findings:
- The T899C mutation in the mitochondrial ATPase 6 gene can lead to a unique phenotype of encephalomyopathy with overgrowth.
- This contrasts with the typical failure to thrive seen in many mitochondrial disorders.
- Clinical presentation included mild encephalopathy, tall stature, and obesity without other common contributing factors.
Implications:
- Children diagnosed with encephalomyopathy should be evaluated for mitochondrial dysfunction, irrespective of growth patterns.
- This highlights the importance of considering oxidative phosphorylation defects in atypical presentations of pediatric neurological conditions.
- Genetic screening for mitochondrial gene mutations should be considered in cases of unexplained encephalomyopathy with significant overgrowth.
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.