title: 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
abstract: 3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis resulting from defective oxidative phosphorylation, and deletions in the mitochondrial genome. 3-Methylglutaconic acid may be an additional useful marker for Pearson syndrome and may be a more specific marker than other organic acids identified in this disorder.
authors.affiliation: Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: M J
authors.initials: MJ
authors.lastname: Bennett
authors.forename: C E
authors.initials: CE
authors.lastname: Mize
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: A
authors.initials: A
authors.lastname: Rotig
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: U
authors.initials: U
authors.lastname: Lichter-Konecki
authors.forename: F K
authors.initials: FK
authors.lastname: Trefz
mesh_terms: D000140:Acidosis, Lactic / Q000652:urine*; D000741:Anemia, Aplastic / Q000652:urine*; D015415:Biomarkers / Q000652:urine; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport; D005260:Female; D017353:Gene Deletion; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006836:Hydro-Lyases / Q000187:drug effects; D007223:Infant; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D009503:Neutropenia / Q000652:urine*; D013577:Syndrome; D013921:Thrombocytopenia / Q000652:urine*
chemical_list: D015415:Biomarkers; D004272:DNA, Mitochondrial; D005977:Glutarates; C022034:3-methylglutaconic acid; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase