title: Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms.
abstract: We report the case of a 13-month-old girl with frequent vomiting, intractable diarrhea, hyperlactatemia, and liver dysfunction. Although the symptoms were treatment resistant, enteral nutrition formula containing medium-chain triglycerides reduced the weight loss, vomiting, and diarrhea. Immunostaining of mitochondrial respiratory chain (MRC) complexes of the colonic mucosa confirmed the diagnosis of MRC complex I deficiency. This case shows that this disease should be included in the differential diagnosis of hyperlactatemia and intractable, cryptogenic gastrointestinal symptoms. In addition, the mucosa of the affected gastrointestinal organ should be analyzed on immunostaining or electron microscopy for MRC complexes.
authors.affiliation: Division of Perinatology and Pediatrics, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kuranobu
authors.affiliation: Division of Perinatology and Pediatrics, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Murakami
authors.affiliation: Division of Perinatology and Pediatrics, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
authors.forename: Naomi
authors.initials: N
authors.lastname: Kuranobu
authors.affiliation: Division of Perinatology and Pediatrics, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Okamoto
authors.affiliation: Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.affiliation: Division of Perinatology and Pediatrics, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
authors.forename: Susumu
authors.initials: S
authors.lastname: Kanzaki
mesh_terms: D003967:Diarrhea / Q000209:etiology; D004579:Electron Transport; D042967:Electron Transport Complex I / Q000172:deficiency*; D005260:Female; D006801:Humans; D065906:Hyperlactatemia / Q000209:etiology; D007223:Infant
chemical_list: D042967:Electron Transport Complex I
keywords: functional gastrointestinal disorder; immunohistochemistry; intractable diarrhea of infancy; lactic acidosis; mitochondrial respiratory chain deficiency