Skip to search formSkip to main contentSkip to account menu

3-methylcrotonyl CoA carboxylase 1 deficiency

Known as: MCC1D, 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency, MCC1 Deficiency 
An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is… 
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal recessive inheritanceComatoseDevelopmental delay (disorder)Enzyme Deficiency
Expand

Broader (1)

Urea Cycle Disorders, Inborn

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Targeting Pyruvate Carboxylase Reduces Gluconeogenesis and Adiposity and Improves Insulin Resistance
We measured the mRNA and protein expression of the key gluconeogenic enzymes in human liver biopsy specimens and found that only… 
Highly Cited
2012
Highly Cited
2012
Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint.
Congenital adrenal hyperplasia (CAH) refers to rare ( 1:10,000), recessively inherited disorders of adrenal steroidogenesis. 21… 
Highly Cited
2012
Highly Cited
2012
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3… 
Review
2008
Review
2008
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Highly Cited
2006
Highly Cited
2006
Effect of Cellulase Mole Fraction and Cellulose Recalcitrance on Synergism in Cellulose Hydrolysis and Binding
Elucidating the molecular mechanisms that govern synergism is important for the rational engineering of cellulase mixtures. Our… 
Highly Cited
2006
Highly Cited
2006
The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005
SummaryNorth Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This… 
Highly Cited
2004
Highly Cited
2004
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
Summary: Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with… 
Highly Cited
2001
Highly Cited
2001
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine… 
Highly Cited
1983
Highly Cited
1983
Organic Acids in Man
Highly Cited
1977
Highly Cited
1977
Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License