FAQ

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

Related topics

Related topics

16 relations
Autosomal recessive inheritanceComatoseDevelopmental delay (disorder)Enzyme Deficiency
(More)

Broader (2)

Carbon-Carbon LigasesUrea Cycle Disorders, Inborn

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
3-methylcrotonyl CoA carboxylase 1 deficiency
Seizures
Vomiting
Comatose
Hereditary Diseases
Autosomal recessive inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program
3-Methylcrotonyl-CoA carboxylase deficiency (3MCCD) is an inborn error of leucine catabolism. Tandem mass spectrometry newborn… (More)
  • table 2
  • table 1
  • table 3
Is this relevant?
Review
2015
Review
2015
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?
BACKGROUND 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCd) is an autosomal recessive disorder in the catabolism of leucine… (More)
Is this relevant?
2015
2015
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?
In this issue of the Journal a paper from Israel describes the biochemical, molecular, and clinical data of all the patients with… (More)
Is this relevant?
2012
2012
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Isolated 3-Methylcrotonyl-CoA carboxylase deficiency (MCC deficiency) is an organic aciduria presenting with a highly variable… (More)
Is this relevant?
2012
2012
Neurochemical Evidence that the Metabolites Accumulating in 3-Methylcrotonyl-CoA Carboxylase Deficiency Induce Oxidative Damage in Cerebral Cortex of Young Rats
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (3MCCD) is an autosomal recessive disorder of leucine metabolism… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2009
2009
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.
A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. A 15-month-old boy, who… (More)
  • table 1
  • table 2
Is this relevant?
2006
2006
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.
W are describing the long-term follow up of a 6 and half-year old patient from Saudi Arabia with Biotin-Resistant 3… (More)
  • table 1
  • figure 1
Is this relevant?
2002
2002
Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency
We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in Argentina. The… (More)
  • figure 1
Is this relevant?
1999
1999
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency
A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis… (More)
  • table 1
  • figure 2
  • table 2
Is this relevant?
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… (More)
  • figure 2
  • figure 3
  • table 1
  • table 2
Is this relevant?