Shepard, PJ; Barshop, BA; Baumgartner, MR; Jepsen, K; Hansen, John-Bjarne; Smith, EN; Frazer, Kelly (Journal article; Tidsskriftartikkel; Peer reviewed, 2014-11-06)
Purpose: 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD)
is an autosomal recessive disorder of leucine catabolism that has a
highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure
to thrive, hemiparesis, muscular hypotonia, and multiple sclerosis.
Implementation of newborn screening for MCCD has resulted in
broadening ...