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Article

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2023

Cheng Yi, Chen Peichun, Yu Zinan, Yin Xiaoshan, Zhang Chao, Miao Haixia, Huang Xinwen

Abstract excerpt

BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal recessive inborn defect of leucine catabolism caused by MCCC1 or MCCC2 variants. 3-MCCD is considered to be a relatively benign disorder with favorable outcome. We report the biochemical, clinical, and molecular features of patients with 3-MCCD. METHODS: From January 2009 to August 2022, 4,402,587 newborns were screened by tandem...

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Identifiers

PMID: 36822454
DOI: 10.1016/j.cca.2023.117266

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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