Monoamine oxidase and catechol-o-m ethyl transferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch-Nyhan syndrome and healthy controls

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Abstract
Monoamine oxidase (MAO) and catechol-o-methyl transferase (COMT) activities were measured in fibroblasts from 9 healthy controls, 3 patients with maple syrup urine disease (MSUD) and 6 patients with Lesch-Nyhan syndrome. Both A and B types of MAO activity are found in these cell lines. In comparison to controls, the MAO activity is significantly reduced in cells from patients with Lesch-Nyhan syndrome. A different situation was observed in the cell lines from MSUD patients: 1 showed a high MAO activity, another a significantly reduced activity, and the 3rd was in the range of the normal controls. COMT activity is also present in these cells, but with a wide variation. No specific differences were noted among the controls and the mutant cells.