Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.
Fibroblasts derived from normal human skin and from cells in amniotic fluid and grown in tissue culture have cystathionine synthase activity. Skin from homocystinuric patients gives rise to fibroblast lines with normal activities of methionine-activating enzyme, but with very low or undetectable cystathionine synthase activity. Thus, the enzyme lesion in homocystinuria is demonstrable in readily available human cells. Neither cystathionine synthase nor methionine-activating enzyme could be detected in intact normal skin.
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D000653:Amniotic Fluid / Q000166:cytology; D046508:Culture Techniques; D005347:Fibroblasts / Q000201:enzymology; D006711:Homocystine / Q000652:urine; D006712:Homocystinuria / Q000201:enzymology; D006801:Humans; D006836:Hydro-Lyases / Q000378:metabolism*; D008607:Intellectual Disability; D008715:Methionine / Q000378:metabolism; D012867:Skin / Q000201:enzymology*; D014166:Transferases / Q000378:metabolism
D006711:Homocystine; D008715:Methionine; D014166:Transferases; D006836:Hydro-Lyases