Adult Form of Glutaric Aciduri a Type II – Under di agnosed Ca useof Proximal Myopathy – a Case Report

Česká verze

Authors: H. Jahnová ^1,2; P. Chrastina ¹; M. Havlová ³; J. Zámečník ⁴
Authors place of work: Ústav dědičných metabolických poruch VFN a 1. LF UK v Praze, 2Klinika dětí a dorostu FNKV, Praha, 3Neurologická klinika VFN a 1. LF UK v Praze, 4Ústav patologi e a molekulární medicíny FN Motol a 2. LF UK v Praze ¹
Published in the journal: Cesk Slov Neurol N 2009; 72/105(3): 260-264
Category: Kazuistika

Summary

Glutaric aciduri a type II or multiple acyl ‑⁠ CoA dehydrogenase defici ency (MIM 231680) is an a utosomal recessively inherited disorder with heterogene o us clinical manifestati on and genetic backgro und, bi ochemically characterized by the accumulati on of specific metabolites so urcing from the defici ent capacity of flavin oxidative enzymes transferring electrons into the system of electron -⁠ transfer flavoprotein (ETF) and electron -⁠ transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). Clinical phenotypes include not only the lethal ne onatal forms, but also the late‑onset disorder, which usu ally manifests with proximal myopathic syndrome and sometimes with attacks of hypoketotic hypoglycemi a. The incidence of the myopathic form of glutaric aciduria type II has not been determined; nevertheless, owing to e asi er access to novel di agnostic methods, including tandem mass spectrometry, and the ever incre asing awareness of clinici ans, the number of di agnosed pati ents has been growing constantly. The case report of o ur pati ent, for the first time di agnosed on the DNA level in the Czech Republic, illustrates not only the clinical co urse of the dise ase, but also the possibiliti es of di agnostics and therapy. It might serve as an inspirati on for ne urological practice.

Key words:
glutaric aciduria type II –⁠ multiple acyl coenzyme A dehydrogenase deficiency –⁠ proximal myopathy –⁠ riboflavin

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