Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia
| dc.contributor.author | Marín, Mariana Ardila | |
| dc.contributor.author | Toro, Carlos Arturo Caicedo | |
| dc.contributor.author | Banguero, Jeyson Steven Rojas | |
| dc.contributor.author | Soto, José María Satizabal | |
| dc.contributor.author | Terranova, Daniela Arturo | |
| dc.date.accessioned | 2025-07-21T22:03:32Z | |
| dc.date.available | 2025-07-21T22:03:32Z | |
| dc.date.issued | 2025 | |
| dc.description | La mucopolisacaridosis IV-A (MPS IV-A) es un trastorno genético autosómico recesivo causado por una deficiencia en la enzima N-acetilgalactosamina-6-sulfatasa, que conduce a la acumulación de condroitina-6-sulfato (C6S) y sulfato de queratán (KS). Se trata de una enfermedad rara y, en Colombia, está catalogada como enfermedad huérfana según la Resolución 023 de 2023. Cabe destacar que su incidencia en Colombia es superior a la reportada en otros países del mundo. El análisis genómico del gen GALNS ha identificado más de 400 variantes en los individuos afectados, lo que permite correlaciones genotipo-fenotipo. Presentamos el caso de un paciente que se presentó inicialmente a los 5 años de edad con talla baja, dismetría de miembros inferiores y genu valgo. A la exploración física se observaron rasgos faciales toscos, cuello corto, pectus carinatum, múltiples deformidades articulares e hiperlaxitud ligamentosa. La actividad enzimática de GALNS se reportó a 0,06 mmol/mL/hora, y la secuenciación completa del gen GALNS se realizó utilizando tecnología de secuenciación de próxima generación (NGS), identificando la variante homocigota c.239C>T (p.Ser80Leu), que se asocia con MPS IV-A. Un análisis bioinformático clasificó esta variante como patógena. Este caso subraya la importancia de la presentación clínica, el uso de metodologías diagnósticas y la confirmación a través de estudios moleculares y bioinformáticos para un diagnóstico preciso y oportuno, así como el valor crítico del seguimiento clínico adecuado. | |
| dc.description.abstract | Mucopolysaccharidosis IV-A (MPS IV-A) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of chondroitin-6-sulfate (C6S) and keratan sulfate (KS). This is a rare disease, and, in Colombia, it is classified as an orphan disease under Resolution 023 of 2023. Notably, its incidence in Colombia is higher than that reported in other countries worldwide. Genomic analysis of the GALNS gene has identified more than 400 variants in affected individuals, enabling genotype-phenotype correlations. We report the case of a patient who was initially presented at the age of 5 with short stature, lower limb dysmetria, and genu valgum. Physical examination revealed coarse facial features, a short neck, pectus carinatum, multiple joint deformities, and ligamentous hyperlaxity. Enzymatic activity of GALNS was reported at 0.06 mmol/mL/hour, and complete sequencing of the GALNS gene was performed using next-generation sequencing (NGS) technology, identifying the homozygous variant c.239C>T (p.Ser80Leu), which is associated with MPS IV-A. A bioinformatic analysis classified this variant as pathogenic. This case underscores the importance of clinical presentation, the use of diagnostic methodologies, and confirmation through molecular and bioinformatic studies for an accurate and timely diagnosis, as well as the critical value of appropriate clinical follow-up. | |
| dc.identifier.citation | Marín, M. A., Toro, C. A. C., Banguero, J. S. R., Soto, J. M. S., & Terranova, D. A. (2025). Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia. Journal of Inborn Errors of Metabolism and Screening, 13. https://doi.org/10.1590/2326-4594-JIEMS-2024-0016 | |
| dc.identifier.issn | 23264098 | |
| dc.identifier.uri | https://repositorio.usc.edu.co/handle/20.500.12421/7581 | |
| dc.language.iso | en | |
| dc.publisher | Latin American Society Inborn Errors and Neonatal Screening | |
| dc.subject | Bioinformatics | |
| dc.subject | Genotype | |
| dc.subject | Lysosomal Storage Diseases | |
| dc.subject | Mucopolysaccharidosis IV (DeCS) | |
| dc.subject | Phenotype | |
| dc.title | Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia | |
| dc.type | Article |
Files
Original bundle
1 - 1 of 1
No Thumbnail Available
- Name:
- Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A.pdf
- Size:
- 161.58 KB
- Format:
- Adobe Portable Document Format
License bundle
1 - 1 of 1
No Thumbnail Available
- Name:
- license.txt
- Size:
- 1.71 KB
- Format:
- Item-specific license agreed upon to submission
- Description: