Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency.

Murayama, Kei; Nagasaka, Hironori; Tsuruoka, Tomoko; Omata, Yuko; Horie, Hiroshi; Tregoning, Simone; Thorburn, David R; Takayanagi, Masaki; Ohtake, Akira

Murayama, Kei; Nagasaka, Hironori; Tsuruoka, Tomoko; Omata, Yuko; Horie, Hiroshi; Tregoning, Simone; Thorburn, David R; Takayanagi, Masaki; Ohtake, Akira.

Affiliation

Murayama K; Department of Metabolism, Chiba Children's Hospital, 579-1, Henda-cho, Midori-ku, Chiba, 266-0007, Japan. kmuraya@mri.biglobe.ne.jp

Eur J Pediatr ; 168(3): 297-302, 2009 Mar.

Article in En | MEDLINE | ID: mdl-18560889

Subject(s)

Diarrhea, Infantile/diagnosis; Diarrhea, Infantile/enzymology; Electron Transport Complex I/deficiency; Mitochondrial Diseases/complications; Mitochondrial Diseases/enzymology; Acidosis, Lactic/complications; Acidosis, Lactic/diagnosis; Blood Gas Analysis; Child, Preschool; Diarrhea, Infantile/etiology; Electron Transport Complex I/analysis; Fatal Outcome; Feces/chemistry; Humans; Infant; Infant, Newborn; Intestinal Mucosa/enzymology; Intestinal Mucosa/pathology; Liver/enzymology; Liver/pathology; Male; Mitochondrial Diseases/diagnosis; Sodium/analysis; Sodium/blood; Sodium/urine; Water-Electrolyte Balance

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Electron Transport Complex I / Diarrhea, Infantile Type of study: Diagnostic_studies / Etiology_studies Limits: Child, preschool / Humans / Infant / Male / Newborn Language: En Journal: Eur J Pediatr Year: 2009 Type: Article Affiliation country: Japan

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