New recommendations for the care of patients with mucopolysaccharidosis type I

Abstract

Abstract in English, Spanish Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up.

Keywords: classification; diagnosis; follow-up; mucopolysaccharidosis type I; treatment.

Sociedad Argentina de Pediatría.