alanine-glyoxylate aminotransferase

al·a·nine-gly·ox·y·late a·mi·no·trans·fer·ase

(al'-a-nē-glī-oks'i-lāt a-mē'nō-tranz'fĕr-ās),
An enzyme that reversibly catalyzes the transfer of an amino group of l-alanine to glyoxylate, thus producing pyruvate and glycine. An inherited disorder that results in an alteration of alanine-glyoxylate aminotransferase activity is associated with primary hyperoxaluria type I.
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(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.