Specific enzymatic assay method for homocysteine and its application to the screening of neonatal homocystinuria.
A simple and specific enzymatic assay method for homocysteine is described. The method is based on the formation of S-adenosylhomocysteine from adenosine and homocysteine through the catalysis of S-adenosylhomocysteine hydrolase (EC 3.3.1.1), followed by its separation by high-performance liquid chromatography. The results for human blood, serum, and urine and those extracted from filter paper showed good correlation with those obtained on measurement with a conventional amino acid analyzer, which demonstrates that the method is useful for neonatal screening for homocystinuria.
D043383:Adenosylhomocysteinase; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D000596:Amino Acids / Q000494:pharmacology; D002851:Chromatography, High Pressure Liquid; D006710:Homocysteine / Q000097:blood* / Q000378:metabolism / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007231:Infant, Newborn; D007700:Kinetics; D008403:Mass Screening; D012435:S-Adenosylhomocysteine / Q000032:analysis
D000596:Amino Acids; D006710:Homocysteine; D012435:S-Adenosylhomocysteine; D006867:Hydrolases; D043383:Adenosylhomocysteinase