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Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization
Author(s) -
McCabe E. R. B.,
Sadava D.,
Bullen W. W.,
McKelvey H. A.,
Seltzer W. K.,
Rose C. I.
Publication year - 1982
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/bf02179133
Subject(s) - glycerol kinase , fibroblast , enzyme , biology , kinase , endocrinology , glycerol , complementation , medicine , kidney , biochemistry , phenotype , in vitro , gene
Glycerol kinase deficiency has been associated with neuromuscular, skeletal and adrenal abnormalities and has also been seen in individuals without these clinical findings. Examination of residual enzyme activity in patients' liver, kidney, leukocytes and fibroblasts showed a generalized, heritable defect: the apparent K m for glycerol was increased 5‐200‐fold over control values, whereas the apparent K m for ATP was not significantly altered. This kinetic defect was similar in fibroblasts from clinically different individuals with this inborn error of metabolism. Hybridization of fibroblasts from these individuals showed no evidence of complementation for glycerol kinase activity.