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Methylcrotonyl‐CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult
Author(s) -
Boneh A.,
Baumgartner M.,
Hayman M.,
Peters H.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0163-1
Subject(s) - medicine , muscle weakness , differential diagnosis , pyruvate carboxylase , weakness , physical therapy , endocrinology , biology , enzyme , surgery , pathology , biochemistry
Summary 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.