title: Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.
abstract: The possibility of genetic heterogeneity in maple syrup urine disease was investigated by measuring branched-chain ketoacid dehydrogenase in polyethylene glycol-induced heterokaryons of lymphoid cells. The lymphoid cell lines from five patients with varying forms of the disease were established after incubation with Epstein-Barr virus. The results suggested that there are at least two genetic complementation groups in the disease.
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D002460:Cell Line; D005816:Genetic Complementation Test; D006801:Humans; D007658:Ketone Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D008214:Lymphocytes / Q000201:enzymology; D008375:Maple Syrup Urine Disease / Q000235:genetics*; D009097:Multienzyme Complexes / Q000235:genetics* / Q000378:metabolism
chemical_list: D009097:Multienzyme Complexes; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)