Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.

Abstract

We present a patient with methylcrotonyl-CoA carboxylase (MCC) deficiency (McKusick 210200) who suffered from severe muscle pain and physical disability, and propose that this disorder be considered in the differential diagnosis of adult patients presenting with muscle pain and weakness.

• Authors: A Boneh, M Baumgartner, M Hayman, H Peters
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 28 Issue 6 Pg. 1139-40 ( 2005) ISSN: 0141-8955 [Print] United States
• PMID: 16435208 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carbon-Carbon Ligases
• methylcrotonoyl-CoA carboxylase
• Carnitine

Topics

• Adolescent
• Biopsy
• Carbon-Carbon Ligases (deficiency)
• Carnitine (metabolism)
• Diagnosis, Differential
• Female
• Humans
• Metabolism, Inborn Errors (diagnosis, physiopathology)
• Muscles (metabolism, pathology)
• Muscular Diseases (diagnosis, enzymology)
• Pain
• Phenotype