Patent ID: 6346382
Filing Date: 2002-02-12
Classification: A61K,A61P,C12N,C12Q,C12Y

Abstract:
A method of screening a human subject for susceptibility to sub-optimal urea cycle function resulting in decreased ammonia clearance, decreased arginine production, and/or decreased citrulline production, the method comprising the steps of:(a) obtaining a nucleic acid sample from the subject; and (b) detecting in said sample a polymorphism that results in a Nâ†’T substitution at amino acid 1405 of a carbamyl phosphate synthetase I (CPSI) polypeptide, the presence of the polymorphism indicating the susceptibility of the subject to sub-optimal urea cycle function resulting in decreased ammonia clearance, decreased arginine production, and/or decreased citrulline production.