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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1977-2015
02419772015

Papers overview

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2015
2015
3-Methylcrotonyl-CoA carboxylase deficiency (3MCCD) is an inborn error of leucine catabolism. Tandem mass spectrometry newborn… (More)
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Review
2015
Review
2015
BACKGROUND 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCd) is an autosomal recessive disorder in the catabolism of leucine… (More)
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2015
2015
In this issue of the Journal a paper from Israel describes the biochemical, molecular, and clinical data of all the patients with… (More)
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2012
2012
Isolated 3-Methylcrotonyl-CoA carboxylase deficiency (MCC deficiency) is an organic aciduria presenting with a highly variable… (More)
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2012
2012
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (3MCCD) is an autosomal recessive disorder of leucine metabolism… (More)
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2009
2009
A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. A 15-month-old boy, who… (More)
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2006
2006
W are describing the long-term follow up of a 6 and half-year old patient from Saudi Arabia with Biotin-Resistant 3… (More)
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2002
2002
We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in Argentina. The… (More)
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1999
1999
A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis… (More)
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1977
1977
Summary: The abnormal metabolites 3-hydroxypropionic acid (1.6–4.0 mg/day) and methylcitric acid (3.7–5.8 mg/day) were identified… (More)
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