Ontology highlight
ABSTRACT:
SUBMITTER: Grunert SC
PROVIDER: S-EPMC3495011 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Grünert Sarah C SC Stucki Martin M Morscher Raphael J RJ Suormala Terttu T Bürer Celine C Burda Patricie P Christensen Ernst E Ficicioglu Can C Herwig Jürgen J Kölker Stefan S Möslinger Dorothea D Pasquini Elisabetta E Santer René R Schwab K Otfried KO Wilcken Bridget B Fowler Brian B Yue Wyatt W WW Baumgartner Matthias R MR
Orphanet journal of rare diseases 20120529
<h4>Background</h4>Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly variable ranging from acute neonatal onset with fatal outcome to asymptomatic adults.<h4>Methods</h4>We report clinical, biochemical, enzymatic and mutation data of 88 MCC deficient individuals, 53 identified by newborn screening, 26 diagnosed due to c ...[more]