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3-methylcrotonyl CoA carboxylase 1 deficiency
Known as:
MCC1D
, 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency
, MCC1 Deficiency
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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…
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National Institutes of Health
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Related topics
Related topics
14 relations
Autosomal recessive inheritance
Comatose
Developmental delay (disorder)
Enzyme Deficiency
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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
N. Kumashiro
,
S. Beddow
,
+18 authors
V. Samuel
Diabetes
2013
Corpus ID: 14570002
We measured the mRNA and protein expression of the key gluconeogenic enzymes in human liver biopsy specimens and found that only…
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Highly Cited
2012
Highly Cited
2012
Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint.
T. Hirvikoski
,
A. Nordenström
,
A. Wedell
,
M. Ritzén
,
S. Lajic
The Journal of clinical endocrinology and…
2012
Corpus ID: 207085100
Congenital adrenal hyperplasia (CAH) refers to rare ( 1:10,000), recessively inherited disorders of adrenal steroidogenesis. 21…
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Highly Cited
2012
Highly Cited
2012
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
S. Wortmann
,
L. Kluijtmans
,
+16 authors
R. Wevers
Journal of Inherited Metabolic Disease
2012
Corpus ID: 28880125
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3…
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Review
2008
Review
2008
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
G. Arnold
,
D. Koeberl
,
+12 authors
N. Longo
Molecular genetics and metabolism
2008
Corpus ID: 12233152
Highly Cited
2006
Highly Cited
2006
Effect of Cellulase Mole Fraction and Cellulose Recalcitrance on Synergism in Cellulose Hydrolysis and Binding
T. Jeoh
,
D. Wilson
,
L. Walker
Biotechnology progress
2006
Corpus ID: 39543348
Elucidating the molecular mechanisms that govern synergism is important for the rational engineering of cellulase mixtures. Our…
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Highly Cited
2006
Highly Cited
2006
The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005
D. Frazier
,
D. Millington
,
+4 authors
J. Muenzer
Journal of Inherited Metabolic Disease
2006
Corpus ID: 1230366
SummaryNorth Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This…
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Highly Cited
2004
Highly Cited
2004
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
D. Koeberl
,
D. Millington
,
+9 authors
D. Frazier
Journal of Inherited Metabolic Disease
2004
Corpus ID: 32511885
Summary: Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with…
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Highly Cited
2001
Highly Cited
2001
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
M. Baumgartner
,
S. Almashanu
,
+5 authors
D. Valle
The Journal of clinical investigation
2001
Corpus ID: 7263411
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine…
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Highly Cited
1983
Highly Cited
1983
Organic Acids in Man
R. Chalmers
,
A. M. Lawson
Archives of disease in childhood
1983
Corpus ID: 38420439
Highly Cited
1977
Highly Cited
1977
Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.
W. Weyler
,
L. Sweetman
,
D. C. Maggio
,
W. Nyhan
Clinica chimica acta; international journal of…
1977
Corpus ID: 32233503
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