Article
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
Journal of inherited metabolic disease - 1 Feb 2007
Salomons G S, Jakobs C, Pope L Landegge, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman J A J, Slade T, Champion M P, Peck D, Gavrilov D, Hillman R, Hoganson G E, Donaldson K, Shield J P H, Ketteridge D, Wasserstein M, Gibson K M
Abstract excerpt
We report nine new patients with malonic aciduria associated with enzyme-confirmed malonyl-CoA decarboxylase (MCD) deficiency in eight. Clinical details were available on eight, and molecular genetic characterization was obtained for nine. As for 15 previously described patients, cardinal clinical manifestations included developmental delay and cardiomyopathy; metabolic perturbations (e.g. acidosis) and seizures,...
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