Respiratory chain complex III deficiency with pruritus: A novel vitamin responsive clinical feature - 08/09/11
Doi : 10.1016/S0022-3476(99)70463-4
David Mowat, MBBS, DRACOG, MRCGP, FRACP, Denise M. Kirby, BSc (Hons), K.Ramanand Kamath, MD, FRACP, DCH, Alex Kan, MBBS, FRACP, David R. Thorburn, BSc (Hons), PhD, John Christodoulou, MBBS, PhD, FRACP, CGHGSA
Western Sydney Genetics Program, the Department of Gastroenterology, and the Department of Anatomical Pathology, Royal Alexandra Hospital for Children, Westmead, Australia; Murdoch Research Institute, Royal Children’s Hospital, Melbourne, Australia; and the Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Abstract |
We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C. (J Pediatr 1999;134:352-4)
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 | Reprint requests: John Christodoulou, Western Sydney Genetics Program, Royal Alexandra Hospital for Children, Hawkesbury Rd, Westmead 2145, NSW Australia. |
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Vol 134 - N° 3
P. 352-354 - mars 1999 Retour au numéro
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