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. 2021 Jun;119(3):e193-e201.
doi: 10.5546/aap.2021.e193.

A few challenges in mucopolysaccharidosis type I

[Article in English, Spanish]
Luisa Bay  1 , Hernán Amartino  2 , Alejandra Antacle  3 , Claudia Arberas  4 , Adriana Berretta  5 , Hugo Botto  6 , Mariana Cazalas  7 , Adriana Copiz  8 , Carmen De Cunto  9 , Guillermo Drelichman  10 , Graciela Espada  11 , Hernán Eiroa  12 , Alejandro Fainboim  13 , Virginia Fano  14 , Norberto Guelber  15 , Alberto Maffey  16 , Claudio Parisi  17 , Marcela Pereyra  18 , Rodrigo Remondino  19 , Andrea Schenone  20 , Norma Spécola  21 , Raquel Staciuk  22 , Graciela Zuccaro  23
Affiliations
Free article

A few challenges in mucopolysaccharidosis type I

[Article in English, Spanish]
Luisa Bay et al. Arch Argent Pediatr. 2021 Jun.
Free article

Abstract
in English, Spanish

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.

Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, sus ventajas y dificultades hasta la sospecha clínica de las formas grave y atenuada; el cuidado de la patología espinal y oftalmológica, desde el diagnóstico, el seguimiento y el tratamiento; las reacciones alérgicas por terapia de reemplazo enzimático, su diagnóstico y tratamiento. Por último, la transición hacia el cuidado adulto.

Keywords: allergy; diagnosis; mucopolysaccharidosis type I; neonatal screening; transition to adult care.

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Conflict of interest statement

Doctors Luisa Bay, Norberto Guelbert, Alejandro Fainboim, Norma Spécola, Guillermo Drelichman, and Marcela Pereyra have received professional fees from Sanofi for conducting teaching activities about lysosomal storage diseases.

References

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    1. Muenzer J, Wraith J, Clarke L. Mucopolysaccharidosis I: Management and Treatment Guidelines. Pediatrics. 2009; 123(1):19-29
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    1. Muñoz-Rojas MV, Bay L, Sanchez L, Van Kuijck M, et al. Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world. J Inherit Metab Dis. 2011; 34(5):1029-37
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