title: 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.affiliation: Metabolic Service, Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Department of Paediatrics, Melbourne University, Melbourne, Australia. avihu.boneh@ghsv.org.au
authors.forename: A
authors.initials: A
authors.lastname: Boneh
authors.forename: M
authors.initials: M
authors.lastname: Baumgartner
authors.forename: M
authors.initials: M
authors.lastname: Hayman
authors.forename: H
authors.initials: H
authors.lastname: Peters
mesh_terms: D000293:Adolescent; D001706:Biopsy; D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D002331:Carnitine / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology*; D009132:Muscles / Q000378:metabolism / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000201:enzymology; D010146:Pain; D010641:Phenotype
chemical_list: D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D002331:Carnitine