Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

Glutaric aciduria type 1 (GA1) is caused by deficiency of the mitochondrial matrix enzyme glutaryl-CoA dehydrogenase (GCDH), leading to accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3OHGA) in tissues and body fluids. During catabolic crises, GA1 patients are prone to the development...

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Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: du Moulin, Marcel, Thies, Bastian, Blohm, Martin, Oh, Jun, Kemper, Markus J., Santer, René, Mühlhausen, Chris
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2017
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5953902/
https://ncbi.nlm.nih.gov/pubmed/28699143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_44
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