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Article

3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?

Journal of pediatric endocrinology & metabolism : JPEM - 18 Dec 2019

Wang Huaiyan, Liu Shuang, Wang Benjing, Yang Yuqi, Yu Bin, Wang Leilei, Wang Ting

Abstract excerpt

Objective To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) should be routinely screened in newborns. Methods Dried blood spots (DBS) were collected and analyzed by tandem mass spectrometry (TMS). Blood samples were collected from infants with positive 3-MCCD results. Targeted sequencing was performed using the extended panel for inherited metabolic diseases to detect 306 genes. The...

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PMID: 31730530
DOI: 10.1515/jpem-2018-0536

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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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