Journal article

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

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

EUROPEAN JOURNAL OF PEDIATRICS | SPRINGER | Published : 2009

Abstract

The etiology of secretory diarrhea in early life is often unclear. We report a Japanese boy who survived until 3 years of age, despite intractable diarrhea commencing soon after birth. The fecal sodium content was strikingly high (109 mmol/L [normal range, 27-35 mmol/L]) and the osmotic gap was decreased (15 mOsm/kg), consistent with the findings of congenital sodium diarrhea. We examined the mitochondrial respiratory chain function by blue native polyacrylamide gel electrophoresis (BN-PAGE) in-gel enzyme staining, BN-PAGE western blotting, respiratory chain enzyme activity assay, and immunohistochemistry. Liver respiratory chain complex (Co) I activity was undetectable, while other respirat..

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