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Mitochondrial disease and cyclic vomiting syndrome
1Division of Medical Genetics, Childrens Hospital, Los Angeles, California 90027, USA.
Digestive Diseases and Sciences
|September 18, 1999
Summary
Mitochondrial DNA mutations may cause cyclic vomiting syndrome in children, often with migraine-like symptoms and developmental issues. Consider mitochondrial disease in unexplained vomiting, especially with maternal history.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Mitochondrial DNA mutations are increasingly linked to human diseases.
- Cyclic vomiting syndrome (CVS) can be debilitating in children.
Observation:
- Six children with CVS and maternal family history were evaluated.
- Migraine-like symptoms, developmental delay, seizures, and poor growth were noted.
- Vomiting onset was typically in the first year of life.
Findings:
- Elevated body fluid lactate was present in 5/6 cases.
- A mitochondrial DNA mutation with a large rearrangement was confirmed in one child.
- These findings suggest a causal link between mitochondrial DNA mutations and CVS.
Implications:
- Mitochondrial disease should be considered in pediatric CVS cases, particularly with additional pathology or maternal inheritance.
- Initial screening for suspected mitochondrial disease should include plasma lactate and urine organic acids during episodes.
- This research highlights a potential genetic etiology for CVS, guiding diagnostic approaches.