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Diseases

Genetic and Rare Diseases Information Center (GARD)

3-methylcrotonyl-CoA carboxylase deficiency


Other Names for this Disease
  • 3MCC
  • 3-MCC deficiency
  • 3-methylcrotonylglycinuria
  • Isolated 3-methylcrotonyl-CoA carboxylase deficiency
  • MCC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) is an inherited condition in which the body is unable to breakdown the amino acid, leucine (a building block of protein). Some children with 3-MCC deficiency will begin developing signs and symptoms during infancy or early childhood; however, more recent studies suggest that many affected babies identified through newborn screening will never experience symptoms of the condition.[1] 3-MCC deficiency may be associated with episodes of "metabolic crisis" in which affected people experience poor appetite, lack of energy, irritability, weakness, nausea and/or vomiting. If metabolic crises are untreated, the condition can lead to developmental delay, seizures, coma, and even death. 3-MCC deficiency is caused by changes (mutations) in MCCC1 or MCCC2 gene and is inherited in an autosomal recessive manner. Treatment may include a low-leucine diet and appropriate supplements.[2]
Last updated: 2/22/2016

References

  1. Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O, Spiegel R. Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. J Inherit Metab Dis. March 2016; 39(2):211-217.
  2. 3-methylcrotonyl CoA carboxylase deficiency. STAR-G. August 2013; http://www.newbornscreening.info/Parents/organicaciddisorders/3MCC.html.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 3-methylcrotonyl-CoA carboxylase deficiency. This website is maintained by the National Library of Medicine.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • The New England Consortium of Metabolic Program has written medical guidelines called acute care protocols for 3-methylcrotonyl-CoA carboxylase deficiency for health care professionals. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 3-methylcrotonyl-CoA carboxylase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 3MCC
  • 3-MCC deficiency
  • 3-methylcrotonylglycinuria
  • Isolated 3-methylcrotonyl-CoA carboxylase deficiency
  • MCC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.