title: Monoamine oxidase and catechol-o-methyltransferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch-Nyhan syndrome and healthy controls.
abstract: Monoamine oxidase (MAO) and catechol-o-methyl transferase (COMT) activities have been measured in fibroblasts from nine healthy controls, three patients with maple syrup urine disease (MSUD) and six 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 has been observed in the cell lines from MSUD patients: one showed a high MAO activity, another a significantly reduced activity, and the third was in the range of the normal controls. COMT activity is also present in these cells, but with a wide variation. No specific differences have been noted among the controls and the mutant cells.
mesh_terms: D002394:Catechol O-Methyltransferase / Q000378:metabolism*; D002460:Cell Line; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D008375:Maple Syrup Urine Disease / Q000201:enzymology*; D008995:Monoamine Oxidase / Q000378:metabolism*
chemical_list: D008995:Monoamine Oxidase; D002394:Catechol O-Methyltransferase