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3‐Methylcrotonyl‐CoA carboxylase deficiency: to screen or not to screen?
Author(s) -
Wilcken Bridget
Publication year - 2016
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-015-9906-9
Subject(s) - newborn screening , asymptomatic , pediatrics , medicine , metabolic disease , inborn error of metabolism
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.