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Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization

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Journal of Inherited Metabolic Disease

Abstract

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 apparentK m for glycerol was increased 5-200-fold over control values, whereas the apparentK 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.

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Authors and Affiliations

  1. Departments of Pediatrics, and Biochemistry, Biophysics and Genetics, University of Colorado School of Medicine, 80262, Denver, CO, USA

    E. R. B. McCabe, D. Sadava, W. W. Bullen, H. A. McKelvey & W. K. Seltzer

  2. Department of Clinical Pathology, Victoria Hospital, N6A 4G5, London, Ontario, Canada

    C. I. Rose

Authors
  1. E. R. B. McCabe
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  2. D. Sadava
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  3. W. W. Bullen
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  4. H. A. McKelvey
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  5. W. K. Seltzer
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  6. C. I. Rose
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McCabe, E.R.B., Sadava, D., Bullen, W.W. et al. Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization. J Inherit Metab Dis 5, 177–182 (1982). https://doi.org/10.1007/BF02179133

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  • DOI: https://doi.org/10.1007/BF02179133

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