Most patients present with some or all of the
following manifestations: chronic urticaria, sensorineural deafness,
periodic arthritis, “aguey bouts.” “Aguey bouts” are composed of (a)
chills, rigors, and malaise; (b) aching pains in distal limbs and large
joints; and (c) urticarial rash over the whole body. Associated findings may
include renal amyloidosis (and renal insufficiency), aminoaciduria,
conjunctivitis, abdominal pain, angioedema, meningitis, and aphthous
ulceration of the buccal mucosa. Hyperglycinuria, and renal stones, as well
as renal amyloidosis, have been reported, but neither is required for the
diagnosis.