Condition: 3-methylcrotonyl CoA carboxylase 1 deficiency


rs1057520695 in MCCC1 gene and 3-methylcrotonyl CoA carboxylase 1 deficiency PMID 11170888 2001 The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

PMID 22150417 2012 Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 27601257 2016 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

PMID 11406611 2001 Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

PMID 22642865 2012 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

PMID 22264772 2012 A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 21071250 2011 Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

PMID 25382614 2015 Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.

PMID 16010683 2005 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

PMID 11181649 2001 The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 17968484 2007 Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 14680978 2003 Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

PMID 25356967 2015 Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

PMID 15359379 2004 Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

PMID 16835865 2006 Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

PMID 24078573 2013 [Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].