The Morquio Syndrome in Colombia from the molecule to the clinic

Main Article Content

Natalia Vallejo Alzate
Paula M. Hurtado

Abstract

Mucopolysaccharidosis type IV-A (MPS IV-A) or Morquio syndrome is an autosomal recessive lysosomal storage disease caused by pathogenic variants of the GALNS gene (16q24.3) responsible for encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS), a catalyst for glycosaminoglycans (GAGs) such as keratan sulfate and chondroitin-6-sulfate. A pathogenic variant causes a deficiency of the enzymatic action of GALNS, generating the accumulation of GAGs within the lysosomes and causing loss of functionality and cell dysplasia. This disease mainly affects the musculoskeletal system and supporting tissues, causing multiple clinical manifestations that evolve progressively, increasingly limiting daily activities and affecting the quality of life of people who have it and that of their families, also leading to life-threatening complications. Given the heterogeneity of clinical manifestations of patients with Morquio Syndrome, a multidisciplinary team is required for its management and thus achieve the therapeutic objectives in each case. In Colombia, as in many parts of the world, there is a lack of knowledge regarding the diagnosis and management of MPS IV-A, added to the difficulties in the country's health system that prevent the satisfactory development of this objective. For this reason, it becomes pertinent to carry out a review of the current scientific literature on the subject, where a description of the pathology is made from its molecular bases to its clinical manifestation, proposing the predictive, diagnostic tools and current treatments available for Colombia and the world.

Downloads

Download data is not yet available.

Article Details

How to Cite
Vallejo Alzate , N., & Hurtado, P. M. (2022). The Morquio Syndrome in Colombia from the molecule to the clinic. Pediatría, 54(4), 146–154. https://doi.org/10.14295/rp.v54i4.193
Section
Review topics

References

Tapiero-Rodríguez SM, Guio JCA, Porras-Hurtado GL, García N, Solano M, Pachajoa H, et al. Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. Appl Clin Genet. 2018;11:45–57.

Su JL, Katherine A, Su B, Santos CV, Contreras GA. Caracterización clínica, estudios genéticos, y manejo de la Mucopolisacaridosis tipo IV A. Medicas UIS. 2013;2b(2):34–50.

Pachajoa H, Ruiz-botero F, Hernández-amariz MF, Eichler S, Castillo-giraldo AO. en dos hermanos del suroccidente colombiano. Análisis clínico, molecular y bioinformático. 2016;83(3):85–92.

Hung S, Hernández G, Briceño Y, Silvestre R, Barrios MC. Morquio Syndrome as a rare cause of disproportionate short stature. pathophysiological, diagnostic and therapeutic approach . about a case. Rev venez Endocrinol Metab. 2016;5(P 90):217–25.

Zarante I, Suárez F. Aspectos clínicos y manejo integral del síndrome de Morquio. Univ Médica PUJ Bogotá. 2007;48(2):166–74.

Noguera-salv R, Fari F. La matriz extracelular: morfología y función. Rev española patología. 2009;42(parte I):249–61. DOI: https://doi.org/10.1016/S1699-8855(09)70192-8

Alba L, Arenas S. La matriz extracelular: salud uninorte. 2002;16:9–18.

Clínicas M. Errores innatos del metabolismo. 1993;18:31–40.

Menéndez C, Zaldivar C, González A. Errores innatos del metabolismo. enfermedades lisosomales. Rev Cuba Pediatr. 2002;74(1):68–76.

Barrera L. Errores innatos del metabolismo. Acta medica Colomb. 1993;18:31–40.

HGNC. GALNS galactosamina (N-acetil) -6-sulfatasa. Vol. 9, NCBI. 2019.

Gene T, Mala T, Gene G, Galns G, Galns P, Alacart G. GALNS GENE [Internet]. GENE Cards- human gene database. 2019. p. 1–18. Disponible en: https://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNS&keywords=GALNS#localization.

Fagerberg L, Hallstrom BM, Oksvold P, Kampf C, Djureinovic D, Odeberg J, et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol Cell Proteomics. 2014;13(2):397–406. DOI: https://doi.org/10.1074/mcp.M113.035600

Tomatsu S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Iwata H, et al. Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. elsevier. 1991;181(2):677–83. DOI: https://doi.org/10.1016/0006-291X(91)91244-7

Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, et al. The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54–61. DOI: https://doi.org/10.1016/j.ymgme.2013.01.021

Navegador G, Galns H, Espejos H, Mis D, Sobre PA. Human GALNS (ENST00000268695.10) Descripción e índice de página Descripción: Homo sapiens galactosamina (N-acetil) -6-sulfatasa (GALNS), transcripción variante 2, ARNm. (de RefSeq NM_001323544). ucsc Genomics Inst [Internet]. 2019;3–6. Disponible en: https://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=ENST00000268695.10&hgg_prot=uc002fly.5&hgg_chrom=chr16&hgg_start=88813733&hgg_end=88856947&hgg_type=knownGene&db=hg38&hgsid=778378329_SKZXVF6EznLUYHWq4hvoTiPg33IY.

Fujitsuka H, Sawamoto K, Peracha H, Mason RW, Mackenzie W, Kobayashi H, et al. Biomarkers in patients with mucopolysaccharidosis type II and IV. Mol Genet Metab Reports [Internet]. 2019;19(January):100455. DOI: https://doi.org/10.1016/j.ymgmr.2019.100455

Kristian O, Thomas G. Trastornos de almacenamiento lisosómico. NCBI. 2013;1–15.

Amalnath DS, Kalaimani S, Dutta TK. Atlantoaxial instability as the presenting feature of Morquio syndrome. Ann Indian Acad Neurol. 2014;17(2):202–3.

Johanna L, Giraldo M, María Á, Rodríguez E, Sánchez A. Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation. Mol Genet Metab Reports. 2018;16(July):53–6. DOI: https://doi.org/10.1016/j.ymgmr.2018.06.008

Mitrovic S, Gouze H, Schaeverbeke T, Gossec L, Fautrel B. Reply to the comment of Alkan Melikoglu ‘Joint manifestations can provide diagnostic clues in Morquio syndrome, a case report.’ Jt Bone Spine [Internet]. 2018; Disponible en: https://doi.org/10.1016/j.jbspin.2018.06.016. DOI: https://doi.org/10.1016/j.jbspin.2018.06.016

Khan S, Alméciga-díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, et al. Mucopolysaccharidosis IVA and glycosaminoglycans. Mol Genet Metab. 2016;18:4c.

Manifestations R, Mucopolysaccharidosis IN. Compromiso respiratorio en mucopolisacaridosis. Neumol Pediatr. 2013;8(1):27–33.

Sawamoto K, Suzuki Y, Mackenzie WG, Theroux MC, Pizarro C, Yabe H, et al. Current therapies for Morquio A syndrome and their clinical outcomes. Expert Opin Orphan Drugs. 2016;4(9):941–51. DOI: https://doi.org/10.1080/21678707.2016.1214572

Amalnath DS, Kalaimani S, Dutta TK. Atlantoaxial instability as the presenting feature of Morquio syndrome Case Report. Ann Indian Acad Neurol. 2014;17:202-203. DOI: https://doi.org/10.4103/0972-2327.132630

Javier C, Díaz A, María A, Suárez M, Tomatsu S, A lab. contribución colombiana al conocimiento colombian contribution to knowledge. ISSN. 2012;34(3):221–41.

Politei J, Schenone AB, Guelbert N, Fainboim A, Szlago M. Enfermedad de Morquio ( mucopolisacaridosis IV-A ): aspectos clínicos , diagnósticos y nuevo tratamiento con terapia de reemplazo enzimático. Arch Argent Pediatr. 2015;113(4):359–64. DOI: https://doi.org/10.5546/aap.2015.359

Couprie J, Denis P, Masset H, Beby F, Guffon N, Reynes N. Ocular manifestations in patients affected by Morquio syndrome (MPS IV). J Fr Ophtalmol . 2010;33(9):617–22. DOI: https://doi.org/10.1016/j.jfo.2010.09.008

Hendriksz CJ, Al-Jawad M, Berger KI, Hawley SM, Lawrence R, Mc Ardle C, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36(2):309–22. DOI: https://doi.org/10.1007/s10545-012-9459-0

Khan S, Alméciga-díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, et al. Mucopolysaccharidosis IVA and glycosaminoglycans. Mol Genet Metab [Internet]. 2016. Disponible en: http://dx.doi.org/10.1016/j.ymgme.2016.11.007. DOI: https://doi.org/10.1016/j.ymgme.2016.11.007

Hernández J. Compromiso respiratorio en mucopolisacaridosis. Neumol Pediatr. 2013;8(1):27–33. DOI: https://doi.org/10.51451/np.v8i1.415

Kenth JJ, Thompson G, Fullwood C, Wilkinson S, Jones S, Bruce IA, et al. The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA : A longitudinal analysis. Mol Genet Metab Reports. 2019;20(April):100487. DOI: https://doi.org/10.1016/j.ymgmr.2019.100487

Giugliani R, Federhen A, Vairo F, Vanzella C. Emerging drugs for the treatment of mucopolysaccharidoses. Expert Opin Emerg Drugs. 2016;21(1):1–6. DOI: https://doi.org/10.1517/14728214.2016.1123690

Kampmann C, Abu-tair T, Gökce S, Lampe C, Reinke J, Mengel E, et al. Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA ( Morquio-A Syndrome ). 2016;1–12. DOI: https://doi.org/10.1371/journal.pone.0162612

Tomatsu S, Montaño AM, Oikawa H, Rowan DJ, Smith M, Barrera L, et al. Mucopolysaccharidosis Type IVA ( Morquio A Disease ): Clinical Review and Current Treatment : A Special Review. Curr Pharm Biotechnol. 2011;12:931–45. DOI: https://doi.org/10.2174/138920111795542615

Colombia SG de SS en S–. Guía de práctica clínica Detección de anomalías congénitas en el recién nacido. 2013. 320 p.

Congreso Republica de Colombia. ley 1980 del 26 de julio de 2019 programa de tamizaje neonatal en Colombia. 2019.

C. TW, Harvey K, Beck M, Burin MG. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab disaease. 2013;36(2):293–307. DOI: https://doi.org/10.1007/s10545-013-9587-1

Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, et al. Development and Testing of New Screening Method for Keratan Sulfate in Mucopolysaccharidosis IVA. Pediatr Res. 2004;55(4):592–7. DOI: https://doi.org/10.1203/01.PDR.0000113767.60140.E9

A. Gonzalez, A. Barcia, Jl D. Protocolo de actuación en las mucopolisacaridosis. Asoc Española Pediatr. 2010;1:24–36.

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, et al. Recommendations for the management of MPS IVA : systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14:2–25.

Hurtado PM, Vallejo N. Alcances y avances. Salut Sci spiritus. 2016;5(3):1–11.

Kadic L, Driessen JJ. General anaesthesia in an adult patient with Morquio syndrom with emphasis on airway issues. Bosn J basic Med Sci. 2012;12(2):130–3. DOI: https://doi.org/10.17305/bjbms.2012.2513

Giugliani R, Harmatz P, Burton BK, Mitchell JJ, Parini R, Raiman J, et al. Impact of long-term elosulfase alfa treatment on six-minute walk test distance in patients with Morquio A syndrome. 2015;(September):2015.

Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, et al. Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines. Biol Blood Marrow Transplant. 2015;21(6):1106–9. DOI: https://doi.org/10.1016/j.bbmt.2015.02.011

Aldenhoven M, Wynn RF, Orchard PJ, Meara AO, Veys P, Fischer A, et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015;125(13):2164–73. DOI: https://doi.org/10.1182/blood-2014-11-608075

Yasuda E, Suzuki Y, Shimada T, Sawamoto K, Mackenzie WG, Theroux MC, et al. Actividad de la vida diaria para el síndrome de Morquio A. NCBI. 2018;118(2):111–22.

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, et al. Recommendations for the management of MPS IVA: Systematic evidence- A nd consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):1–21. DOI: https://doi.org/10.1186/s13023-019-1074-9

Sambasivarao S V. Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysacharidosis IVA. NIH Public Access. 2013;18(9):1199–216.

Ministerio de Salud y Protección Social. Resolución 2048 de 2015. Repub Colomb Gob Nac. 2015;1–18.

Congreso Colombiano. Ley 1751 del 2015 [Internet]. Ley estatutaria 2015 p. 13.

Ana Milena Gómez, Reggie García FS. Estimación de las frecuencias de las mucopolisacaridosis y análisis de agrupamiento espacial en los departamentos de Cundinamarca y Boyacá. 2012;32:602–9.

Sandra M Castrillón. INFORME DE EVENTO DE ENFERMEDADES HUÉRFANAS - RARAS, COLOMBIA, 2018. Inst Nac salud. 2018;3:2–22.

Martínez JC, Misnaza SP. Mortalidad por enfermedades huérfanas en Colombia , 2008-2013. Biomedica. 2018;38:198–208. DOI: https://doi.org/10.7705/biomedica.v38i0.3876

Tapiero-Rodríguez SM, Guio JCA, Porras-hurtado GL, García N. Determinación de las características genotípicas y clínicas de pacientes colombianos con mucopolisacaridosis IVA. Appl Clin Genet. 2018;11:45–57. DOI: https://doi.org/10.2147/TACG.S141881

Gómez AM, García-robles R, Suárez-Obando F. Estimación de las frecuencias de las mucopolisacaridosis y análisis de agrupamiento espacial en los departamentos de Cundinamarca y Boyacá Buscar. Biomedica. 2012;32(4):1–7. DOI: https://doi.org/10.7705/biomedica.v32i4.574

Similar Articles

<< < 14 15 16 17 18 19 20 21 22 23 > >> 

You may also start an advanced similarity search for this article.