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Mitochondrial disease and cyclic vomiting syndrome
1Division of Medical Genetics, Childrens Hospital, Los Angeles, California 90027, USA.
Insights
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.
Abstract:
Mutations of mitochondrial DNA are being increasingly recognized as a cause of human disease. Six unrelated children have been evaluated with cyclic vomiting syndrome and a strong maternal family history suggesting a mitochondrial DNA mutation. Manifestations suggestive of migraine were present in each child. Additional clinical findings present in all cases include: developmental delay (3/6 cases), seizures (3/6), and poor growth (3/6). The age of onset for vomiting episodes was < or = 1 year in five cases. An elevated body fluid lactate (lactic acid) was found in 5/6 cases. A mitochondrial DNA mutation was confirmed in one child with the finding of a large rearrangement. These cases suggest that mitochondrial DNA mutations can cause cyclic vomiting syndrome. Mitochondrial disease should be considered in cases of cyclic vomiting, especially those with additional pathology or possible maternal inheritance. Initial screening should include plasma lactate and urine organic acids obtained during an episode.