Abstract

In this issue of the Journal a paper from Israel describes the biochemical, molecular, and clinical data of all the patients with 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) diagnosed as a result of 50 months of extended newborn screening—16 newborns, 20 affected mothers, and four other family members. Based on this report of mainly asymptomatic subjects, the Israeli Ministry of Health has decided to exclude 3MCCD from routine newborn screening.

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