%0 Journal Article
%T 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
%A Sarah C Gr¨¹nert
%A Martin Stucki
%A Raphael J Morscher
%A Terttu Suormala
%A Celine B¨¹rer
%A Patricie Burda
%A Ernst Christensen
%A Can Ficicioglu
%A J¨¹rgen Herwig
%A Stefan K£¿lker
%A Dorothea M£¿slinger
%A Elisabetta Pasquini
%A Ren¨¦ Santer
%A K Otfried Schwab
%A Bridget Wilcken
%A Brian Fowler
%A Wyatt W Yue
%A Matthias R Baumgartner
%J Orphanet Journal of Rare Diseases
%D 2012
%I BioMed Central
%R 10.1186/1750-1172-7-31
%X We report clinical, biochemical, enzymatic and mutation data of 88 MCC deficient individuals, 53 identified by newborn screening, 26 diagnosed due to clinical symptoms or positive family history and 9 mothers, identified following the positive newborn screening result of their baby.Fifty-seven percent of patients were asymptomatic while 43% showed clinical symptoms, many of which were probably not related to MCC deficiency but due to ascertainment bias. However, 12 patients (5 of 53 identified by newborn screening) presented with acute metabolic decompensations. We identified 15 novel MCCC1 and 16 novel MCCC2 mutant alleles. Additionally, we report expression studies on 3 MCCC1 and 8 MCCC2 mutations and show an overview of all 132 MCCC1 and MCCC2 variants known to date.Our data confirm that MCC deficiency, despite low penetrance, may lead to a severe clinical phenotype resembling classical organic acidurias. However, neither the genotype nor the biochemical phenotype is helpful in predicting the clinical course.
%K 3-Methylcrotonyl-CoA carboxylase
%K MCCC1
%K MCCC2
%K Biotin
%K Inborn error
%K Organic aciduria
%K Newborn screening
%U http://www.ojrd.com/content/7/1/31/abstract