[Human fibroblast bank for studying amino acid disorders and organic acidemias].
The establishment of a fibroblast bank from patients with biochemical alterations in the metabolism of aminoacids and organic acids has been initiated. The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria. Thirty six human cell lines corresponding to patients with these diseases, their relatives and control individuals have been accumulated.
D000138:Acidosis / Q000473:pathology; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D002460:Cell Line; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005347:Fibroblasts / Q000201:enzymology; D005998:Glycine / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007773:Lactates / Q000378:metabolism; D008375:Maple Syrup Urine Disease / Q000473:pathology; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008764:Methylmalonic Acid / Q000378:metabolism; D011422:Propionates / Q000097:blood
D007773:Lactates; D011422:Propionates; D008764:Methylmalonic Acid; D005998:Glycine
Banco de fibroblastos humanos para el estudio de aminoacidopatías y acidemias orgánicas.