3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

<p>Abstract</p> <p>Background</p> <p>Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in <it>MCCC1</it> or <it>MCCC2</it> encoding the α and β subunit of MCC,...

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Bibliographic Details
Main Authors: Grünert Sarah C, Stucki Martin, Morscher Raphael J, Suormala Terttu, Bürer Celine, Burda Patricie, Christensen Ernst, Ficicioglu Can, Herwig Jürgen, Kölker Stefan, Möslinger Dorothea, Pasquini Elisabetta, Santer René, Schwab K, Wilcken Bridget, Fowler Brian, Yue Wyatt W, Baumgartner Matthias R
Format: Article
Language:English
Published: BMC 2012-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
3-Methylcrotonyl-CoA carboxylase
MCCC1
MCCC2
Biotin
Inborn error
Organic aciduria
Newborn screening
Online Access:http://www.ojrd.com/content/7/1/31

Internet

http://www.ojrd.com/content/7/1/31

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