A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting
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We report the incidence of mitochondrial DNA (mtDNA) mutations and/or deletions in a family from Southern Italy in which four members were affected by a cyclic vomiting syndrome (CVS). The A3243G mtDNA mutation was detected in a boy, his mother, maternal grandmother, and aunt but not in other relatives of the family.
Patients with a CVS experience a minimum of three distinct episodes of vomiting and nausea, usually involving more than four emeses in one hour at the peak. They feel quite well between episodes. There is no apparent underlying cause for the vomiting . In the differential diagnosis of CVS, mtDNA mutations should be considered when there is a maternal history of CVS and migraine, clinical findings of seizures, neuromuscular and gastrointestinal symptoms and laboratory evidence of lactate increase .
A family was recruited with four members suffering from CVS: a 5-year-old boy, his mother, the maternal grandmother and aunt. The three adults were affected by CVS during chi ...
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- A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting
European Journal of Pediatrics
Volume 162, Issue 10 , pp 727-728
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