3-methylcrotonyl-CoA carboxylase deficiency
Other Names for this Disease
- 3-MCC deficiency
- Isolated 3-methylcrotonyl-CoA carboxylase deficiency
- MCC deficiency
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newborn screening will never experience symptoms of the condition. 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.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
Last updated: 2/22/2016
- 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.
- 3-methylcrotonyl CoA carboxylase deficiency. STAR-G. August 2013; http://www.newbornscreening.info/Parents/organicaciddisorders/3MCC.html.
- 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.
- 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.