Bay Luisa, Amartino Hernán, Antacle Alejandra, Arberas Claudia, Berretta Adriana, Botto Hugo, Cazalas Mariana, Copiz Adriana, De Cunto Carmen, Drelichman Guillermo, Espada Graciela, Eiroa Hernán, Fainboim Alejandro, Fano Virginia, Guelber Norberto, Maffey Alberto, Parisi Claudio, Pereyra Marcela, Remondino Rodrigo, Schenone Andrea, Spécola Norma, Staciuk Raquel, Zuccaro Graciela
Servicio de Errores Congénitos del Metabolismo, Hospital "Prof. Dr. Juan P. Garrahan".
Servicio de Neurología Infantil, Clínica de Mucopolisacaridosis, Hospital Universitario Austral, Pilar, Buenos Aires.
Arch Argent Pediatr. 2021 Jun;119(3):e193-e201. doi: 10.5546/aap.2021.e193.
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care.
