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August 2, 2024Molecular Genetics and Metabolism ReportsOpen Access

Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China

Weihua Lin Kunyi Wang Yanru Chen Zhenzhu Zheng Yiming Lin

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Abstract

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal recessive leucine catabolism condition caused by 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency due to

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Cite This Study

Lin et al. (2024) studied this question.

synapsesocial.com/papers/68e5d9f4b6db6435875701a0 https://doi.org/10.1016/j.ymgmr.2024.101127

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