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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… Expand
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal recessive inheritanceComatoseDevelopmental delay (disorder)Enzyme Deficiency
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Broader (1)

Urea Cycle Disorders, Inborn

Papers overview

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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… Expand
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2012
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… Expand
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2006
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… Expand
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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… Expand
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2005
2005
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most… Expand
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2003
2003
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… Expand
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2001
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… Expand
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1998
1998
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure
Abstract Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct… Expand
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1977
1977
Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.
The enzymes 3-methylcrotonyl-CoA carboxylase and propionyl-CoA carboxylase were studied in fibroblasts derived from a patient… Expand
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1977
1977
Propionyl-CoA Carboxylase Deficiency in a Patient with Biotin-responsive 3-Methylcrotonylglycinuria
Summary: The abnormal metabolites 3-hydroxypropionic acid (1.6–4.0 mg/day) and methylcitric acid (3.7–5.8 mg/day) were identified… Expand
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