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Article

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Journal of inherited metabolic disease - 1 Mar 2016

Rips Jonathan, Almashanu Shlomo, Mandel Hanna, Josephsberg Sagi, Lerman-Sagie Tally, Zerem Ayelet, Podeh Ben, Anikster Yair, Shaag Avraham, Luder Anthony, Staretz Chacham Orna, Spiegel Ronen

Abstract excerpt

BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3MCCD) is an inborn error of leucine catabolism. Tandem mass spectrometry newborn screening (NBS) programs worldwide confirmed 3MCCD to be the most common organic aciduria and a relatively benign disorder with favorable outcome. In addition, several asymptomatic 3MCCD mothers were initially identified following abnormal screening of their healthy babies and...

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PMID: 26566957
DOI: 10.1007/s10545-015-9899-4

Genes

MCCC1
MCCC2

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