biostudies-literatureMonteagudo-Vilavedra EInstituto de Salud Carlos IIIMPS LisosomalesKaertor foundation2408https://www.ebi.ac.uk/biostudies/studies/S-EPMC11941985biostudies-literatureUnknown26(6)Mucolipidosis type II is a very rare lysosomal disease affecting the UDP-GlcNAc N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the targeting signal mannose 6-phosphate in lysosomal acid hydrolases. Its deficiency hinders the arrival of lysosomal enzymes to the lysosome, diminishing the multiple degradations of components that cells need to perform. Due to the low prevalence of this condition, available information is scarce. This article aims to deepen the understanding of the disease; clinical, biochemical, and proteomic data are analyzed. Three patients have been identified presenting <i>GNPTAB</i> pathogenic variants using whole exome sequencing. A biochemical profile for these patients has been carried out through quantification of glycosaminoglycans International journal of molecular sciencesNovel Phenotypical and Biochemical Findings in Mucolipidosis Type II.PMC11941985no numberNo numberCD22/00160Alvarez JVRodrigues DColon CLopez-Valverde LMonteagudo-Vilavedra EVella GPena CSanchez-Pintos PBravo SBOtero Espinar FJCouce MLfalseNovel Phenotypical and Biochemical Findings in Mucolipidosis Type II.Mucolipidosis type II is a very rare lysosomal disease affecting the UDP-GlcNAc N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the targeting signal mannose 6-phosphate in lysosomal acid hydrolases. Its deficiency hinders the arrival of lysosomal enzymes to the lysosome, diminishing the multiple degradations of components that cells need to perform. Due to the low prevalence of this condition, available information is scarce. This article aims to deepen the understanding of the disease; clinical, biochemical, and proteomic data are analyzed. Three patients have been identified presenting <i>GNPTAB</i> pathogenic variants using whole exome sequencing. A biochemical profile for these patients has been carried out through quantification of glycosaminoglycans 2025-01-01T00:00:00Z2025 Mar2026-04-08T18:54:38.089Z2026-04-08T11:18:45.058ZS-EPMC119419854014105210.3390/ijms26062408