title: [Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
abstract: Mucopolysaccharidosis type IV-A (Morquio A disease) is an autosomal recessive lysosomal storage disease caused by mutations in the gene encoding the N-acetylgalactosamine-6-sulfate sulfatase, that results in impaired catabolism of two glycosaminoglycans, chondroitin-6-sulfate and keratan sulfate. Clinical presentations reflect a spectrum of progression from a severe phenotype to an attenuated expression. Accumulation of substrate manifests predominantly as short stature and skeletal dysplasia, including atlantoaxial instability and cervical cord compression. Other abnormalities in the visual, auditory, cardiovascular and respiratory systems can also affect individuals with Morquio disease. Elosulfase alfa showed in clinical trials in children and adults a significant and sustained improvement in endurance and urinary levels of keratan sulfate. Data from the ongoing observational, multinational Morquio A Registry Study will provide valuable information on the long-term efficacy and safety of elosulfase alfa in patients, as well as on the natural history of this very rare disease.
authors.affiliation: Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires.
authors.forename: Juan
authors.initials: J
authors.lastname: Politei
authors.affiliation: Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires.
authors.forename: Andrea B
authors.initials: AB
authors.lastname: Schenone
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas, Córdoba.
authors.forename: Norberto
authors.initials: N
authors.lastname: Guelbert
authors.affiliation: Hospital General de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Fainboim
authors.affiliation: Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires.
authors.forename: Marina
authors.initials: M
authors.lastname: Szlago
mesh_terms: D002675:Child, Preschool; D002811:Chondroitinsulfatases / Q000627:therapeutic use*; D056947:Enzyme Replacement Therapy; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000188:drug therapy*
chemical_list: D002811:Chondroitinsulfatases; C102295:GALNS protein, human