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

European Journal of Pediatrics

Volumn 168, Issue 3, 2009, Pages 297-302

  Murayama, Kei ^a   Nagasaka, Hironori ^a   Tsuruoka, Tomoko ^a   Omata, Yuko ^e   Horie, Hiroshi ^a   Tregoning, Simone ^b   Thorburn, David R ^b,c   Takayanagi, Masaki ^a   Ohtake, Akira ^d  

^a CHIBA CHILDREN'S HOSPITAL   (Japan)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d SAITAMA MEDICAL UNIVERSITY   (Japan)

^e CHIBA UNIVERSITY   (Japan)

Author keywords

Complex I deficiency; Intractable secretory diarrhea; Mitochondrial respiratory chain disorder

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ANAMNESIS; ARTICLE; BLOOD GAS ANALYSIS; CASE REPORT; CLINICAL FEATURE; DIARRHEA; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; JAPANESE; MALE; PARENTERAL NUTRITION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ACIDOSIS, LACTIC; BLOOD GAS ANALYSIS; CHILD, PRESCHOOL; DIARRHEA, INFANTILE; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FECES; HUMANS; INFANT; INFANT, NEWBORN; INTESTINAL MUCOSA; LIVER; MALE; MITOCHONDRIAL DISEASES; SODIUM; WATER-ELECTROLYTE BALANCE;

EID: 59449085688     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0753-7     Document Type: Article

References (18)

1. GB Avery O Villavicencio JR Lilly JG Randolph 1968 Intractable diarrhea in early infancy Pediatrics 41 712 722
2. FP Bernier A Boneh X Dennett CW Chow MA Cleary DR Thorburn 2002 Diagnostic criteria for respiratory chain disorders in adults and children Neurology 59 1406 1411
3. IW Booth G Stange H Murer TR Fenton PJ Milla 1985 Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea Lancet 1 1066 1069
4. V Cormier-Daire JP Bonnefont P Rustin C Maurage H Ogler J Schmitz C Ricour JM Saudubray A Munnich A Rötig 1994 Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy J Pediatr 124 63 70
5. F Dabbeni-Sala S Di Santo D Franceschini SD Skaper P Giusti 2001 Melatonin protects against 6-OHDA-induced neurotoxicity in rats: a role for mitochondrial complex I activity FASEB J 15 164 170
6. JS Fordtran 1967 Speculations on the pathogenesis of diarrhea Fed Proc 26 1405 1414
7. S Hihnala P Höglund L Lammi J Kokkonen T Ormälä C Holmberg 2006 Long-term clinical outcome in patients with congenital chloride diarrhea J Pediatr Gastroenterol Nutr 42 369 375
8. C Holmberg J Perheentupa 1985 Congenital Na+ diarrhea: a new type of secretory diarrhea J Pediatr 106 56 61
9. DM Kirby M Crawford MA Cleary HH Dahl X Dennett DR Thorburn 1999 Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder Neurology 52 1255 1264
10. DM Kirby R Salemi C Sugiana A Ohtake L Parry KM Bell EP Kirk A Boneh RW Taylor HH Dahl MT Ryan DR Thorburn 2004 NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency J Clin Invest 114 837 845
11. T Müller C Wijmenga AD Phillips A Janecke RH Houwen H Fischer H Ellemunter M Frühwirth F Offner S Hofer W Müller IW Booth P Heinz-Erian 2000 Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes Gastroenterology 119 1506 1513
12. A Munnich P Rustin 2001 Clinical spectrum and diagnosis of mitochondrial disorders Am J Med Genet 106 4 17
13. I Ogilvie NG Kennaway EA Shoubridge 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy J Clin Invest 115 2784 2792
14. AD Phillips J Schmitz 1992 Familial microvillous atrophy: a clinicopathological survey of 23 cases J Pediatr Gastroenterol Nutr 14 380 396
15. S Rahman RB Blok H-HM Dahl DM Danks DM Kirby CW Chow J Christodoulou DR Thorburn 1996 Leigh syndrome: clinical features and biochemical and DNA abnormalities Ann Neurol 39 343 351
16. H Schägger H Aquila G Von Jagow 1988 Coomassie blue-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for direct visualization of polypeptides during electrophoresis Anal Biochem 173 201 205
17. RW Taylor GA Taylor SE Durham DM Turnbull 2001 The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations Nucleic Acids Res 29 E74
18. DR Thorburn C Sugiana R Salemi DM Kirby L Worgan A Ohtake MT Ryan 2004 Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders Biochim Biophys Acta 1659 121 128