A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts Academic Article uri icon

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abstract

  • Cultured fibroblasts from a patient with methylmalonic acidemia, clinically responsive to vitamin B-12, were studied in vitro. Kinetic analysis revealed abnormal binding of the coenzyme, 5'-deoxyadenosylcobalamin, for its methylmalonyl-CoA carbonylmutase apoenzyme, i.e., KM of 3.8 X 10(-5) M versus control KM of 1.5 X 10(-8) M. These data are interpreted as indicating a structural defect of the apoenzyme at the coenzyme binding site, and represent another variant of this genetic disorder.

authors

  • Morrow, Grant
  • Revsin, Betty
  • Clark, Robin
  • Lebowitz, Joyce
  • Whelan, Donald

publication date

  • April 1978