An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency

Clin Chem. 2021 Sep 1;67(9):1290-1292. doi: 10.1093/clinchem/hvab096.

Authors

Irene De Biase^{1

2}, Tatiana Yuzyuk^{1

2}, Alicia Hernandez³, Alice Basinger³

Affiliations

¹ Department of Pathology, University of Utah, Salt Lake City, UT.
² ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT.
³ Department of Genetics, Cook Children's Physician Network, TX.

PMID: 34470039
DOI: 10.1093/clinchem/hvab096

No abstract available

Keywords: gas chromatography–mass spectrometry; multiple acyl-CoA dehydrogenase deficiency; newborn screening; urine organic acids.

MeSH terms

Humans
Lipid Metabolism, Inborn Errors* / diagnosis
Malonates
Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / diagnosis
Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / genetics

Substances

Malonates
ethylmalonic acid