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Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E. Malvagia S, et al. Ann Hum Genet. 2007 Nov;71(Pt 6):705-12. doi: 10.1111/j.1469-1809.2007.00373.x. Epub 2007 May 29. Ann Hum Genet. 2007. PMID: 17535268
Malonic aciduria is a rare autosomal recessive disorder caused by deficiency of malonyl-CoA decarboxylase, encoded by the MLYCD gene. ...
Malonic aciduria is a rare autosomal recessive disorder caused by deficiency of malonyl-CoA decarboxylase …
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.
Lee SH, Ko JM, Song MK, Song J, Park KS. Lee SH, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1379. doi: 10.1002/mgg3.1379. Epub 2020 Jun 30. Mol Genet Genomic Med. 2020. PMID: 32602666 Free PMC article.
BACKGROUND: Malonic aciduria (MA, OMIM#248360) is an extremely rare inherited metabolic disorder caused by the deficiency of malonyl-CoA decarboxylase. The phenotype exhibited by patients with MA is variable, but may include symptoms, such as de …
BACKGROUND: Malonic aciduria (MA, OMIM#248360) is an extremely rare inherited metabolic disorder caused by the deficiency of …