(NASDAQ: ALNY) has expanded the Alnylam Act program to include no-charge, third-party genetic testing and counseling for adults and children who may have mutations in alanine-glyoxylate aminotransferase
(AGXT), the key gene known to be associated with primary hyperoxaluria type 1, an ultra-rare, autosomal recessive disease characterized by pathologic overproduction of oxalate by the liver, the company said.
Cutaneous oxalosis can occur as a primary disorder, when patients have metabolic errors and lack alanine-glyoxylate aminotransferase
or D-glycerate dehydrogenase.
(13) However, a genetic polymorphism present in up to 20% of Caucasian groups called P11L codes for a protein with 3 times less activity of alanine-glyoxylate aminotransferase
(AGT) than the predominant normal activity polymorphism, leading to excessive endogenous production of oxalates.