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Muscle carnitine palmityltransferase deficiency: A case with enzyme deficiency in cultured fibroblasts
Author(s) -
Didonato S.,
Cornelio F.,
Pacini L.,
Peluchetti D.,
Rimoldi M.,
Spreafico S.
Publication year - 1978
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410040513
Subject(s) - enzyme deficiency , carnitine , enzyme , endocrinology , medicine , enzyme assay , biology , biochemistry
A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.