PMID: 7537025Nov 1, 1994Paper

Malonic aciduria

Brain & Development
P T OzandJ Christodoulou

Abstract

Three infants with malonic aciduria are reported, one of whom could be studied in detail. All children had severe and progressive encephalopathy with intermittent ketoacidosis and hypoglycemia. One infant died of cardiomyopathy. Biochemical studies revealed that one patient had neither malonyl-CoA decarboxylase nor glutaryl-CoA dehydrogenase deficiencies. This variant of malonic aciduria is different from that of four patients previously reported, both in its clinical and biochemical presentations. The biochemical pathology of this variant malonic aciduria is unknown.

References

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Citations

Sep 11, 2001·Journal of Neuroscience Research·S SurendranR Matalon
Sep 1, 1996·Metabolic Brain Disease·M PodellW R Fenner
Aug 2, 2002·Biochimica Et Biophysica Acta·Gha Young LeeYu Sam Kim
Nov 1, 1994·Brain & Development·B StigsbyP T Ozand
Feb 10, 2016·American Journal of Medical Genetics. Part a·Huan LiuHuiwen Zhang
Sep 26, 2002·Journal of Biochemistry and Molecular Biology·Gha Young LeeYu Sam Kim
Nov 23, 2011·Molecular Genetics and Metabolism·Jinjie XueLingqian Wu
Mar 21, 1998·Journal of Inherited Metabolic Disease·B BuyukgebizW J Kleijer
May 26, 2004·Journal of Inherited Metabolic Disease·J FleckC F Mello
Jun 20, 2006·Free Radical Biology & Medicine·Nadezhda I FedotchevaMariya N Kondrashova

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