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

A Boneh; M Baumgartner; M Hayman; H Peters

doi:10.1007/s10545-005-0163-1

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

J Inherit Metab Dis. 2005;28(6):1139-40. doi: 10.1007/s10545-005-0163-1.

Authors

A Boneh¹, M Baumgartner, M Hayman, H Peters

Affiliation

¹ Metabolic Service, Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Department of Paediatrics, Melbourne University, Melbourne, Australia. [email protected]

PMID: 16435208
DOI: 10.1007/s10545-005-0163-1

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.

Publication types

Case Reports

MeSH terms

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

Substances

Carbon-Carbon Ligases
methylcrotonoyl-CoA carboxylase
Carnitine