title: Mitochondrial disease and cyclic vomiting syndrome.
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.
authors.affiliation: Division of Medical Genetics, Childrens Hospital, Los Angeles, California 90027, USA.
authors.forename: R G
authors.initials: RG
authors.lastname: Boles
authors.forename: J C
authors.initials: JC
authors.lastname: Williams
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000097:blood; D008297:Male; D008881:Migraine Disorders / Q000235:genetics / Q000503:physiopathology; D008928:Mitochondria / Q000502:physiology*; D010375:Pedigree; D010507:Periodicity; D013577:Syndrome; D014839:Vomiting / Q000235:genetics / Q000503:physiopathology*
chemical_list: D004272:DNA, Mitochondrial; D019344:Lactic Acid