一名患有甲基丙二酸血症的青少年患者出现可逆性终末期肾病。 - Suppr

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Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria.

作者信息

Schmitt Claus Peter, Mehls Otto, Trefz Friedrich K, Hörster Friederike, Weber T Lutz, Kölker Stefan

出版信息

Pediatr Nephrol. 2004 Oct;19(10):1182-4. doi: 10.1007/s00467-004-1570-5. Epub 2004 Jul 16.

DOI:10.1007/s00467-004-1570-5

PMID:15258847

Abstract

摘要

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本文引用的文献

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.

J Biol Chem. 2003 Nov 28;278(48):47388-93. doi: 10.1074/jbc.M308861200. Epub 2003 Sep 12.

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.

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