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Review
. 2021 Apr;119(2):e121-e128.
doi: 10.5546/aap.2021.eng.e121.

New recommendations for the care of patients with 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  1 , Alejandro Fainboim  12 , Virginia Fano  13 , Rorberto Guelber  14 , Alberto Maffey  15 , Claudio Parisi  16 , Marcela Pereyra  17 , Rodrigo Remondino  18 , Andrea Schenone  19 , Norma Spécola  20 , Raquel Staciuk  21 , Graciela Zuccaro  22
Affiliations
Free article
Review

New recommendations for the care of patients with mucopolysaccharidosis type I

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

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.

Dados los avances sobre mucopolisacaridosis I con posterioridad al consenso publicado en la Argentina por un grupo de expertos en 2008, se revisan recomendaciones respecto a estudios genéticos, seguimiento cardiológico, cuidado de la vía aérea, alertas sobre aspectos auditivos, de la patología espinal y neurológica. Se hace revisión de la terapéutica actual y se enfatiza en la necesidad de un diagnóstico y tratamiento precoces, así como de un seguimiento interdisciplinario.

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

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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

    1. Grupo de trabajo de enfermedades poco frecuentes. Consenso de diagnóstico y tratamiento de la mucopolisacaridosis tipo I. Arch Argent Pediatr. 2008; 106(4):361-8.
    1. Clarke LA, Giugliani R, Guffon N, Jones SA, et al. Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clin Genet. 2019; 96(4):281-9.
    1. Izumi Y, Saito T, Sato S, Shimizu W. Myocardial Alterations in a Patient with Mucopolysaccharidosis Type I. Eur Heart J. 2018; 39(21):1863.
    1. Soliman OI, Timmermans RG, Nemes A, Vletter WB, et al. Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab DisCardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis. 2007; 30(5):750-7.
    1. Watanabe N, Anagnostopoulos PV, Azakie A. Aortic stenosis in a patient with Hurler’s syndrome after bone marrow transplantation. Cardiol Young. 2011; 21(3):349-50.

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