Clinical guidelines for infantile-onset Pompe disease
*Correspondencia: Dr. Samuel Ignacio Pascual Pascual. Servicio de Neurología Pediátrica. Hospital Universitario La Paz. UAM. Paseo de la Castellana, 261. E-28046 Madrid.
E-mail: ipascual@salud.madrid.org
Summary. Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.
