{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:09:43Z","timestamp":1787022583996,"version":"build-2736575974"},"reference-count":31,"publisher":"Walter de Gruyter GmbH","issue":"12","license":[{"start":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:00:00Z","timestamp":1760054400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0352_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Mucolipidosis (ML) type II \u03b1\/\u03b2 (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the\n                      <jats:italic>GNPTAB<\/jats:italic>\n                      (ML III \u03b1\/\u03b2) and\n                      <jats:italic>GNPTG<\/jats:italic>\n                      (ML III \u03b3) genes, leading to impaired lysosomal enzyme trafficking. These disorders manifest as progressive multisystem diseases with skeletal, neurological, cardiovascular, and respiratory involvement. This study aims to characterise pediatric patients\u2019 clinical, biochemical, genetic, and radiological findings with ML II \u03b1\/\u03b2 and III\u03b1\/\u03b2 or \u03b3 to enhance understanding of disease diagnosis and progression.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0352_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This retrospective cohort study included 19 pediatric patients (15\u202fML II \u03b1\/\u03b2, 3\u202fML III \u03b3, 1\u202fML III \u03b1\/\u03b2) diagnosed at a tertiary referral center. Clinical data, including facial dysmorphism, skeletal abnormalities, organomegaly, cardiovascular involvement, and neurological findings, were recorded at baseline and follow-up. Biochemical analysis included urinary glycosaminoglycan (GAG) levels and lysosomal enzyme activities. For molecular diagnostics, next-generation sequencing (NGS) was utilized using a targeted gene panel that contained\n                      <jats:italic>GNPTG<\/jats:italic>\n                      and\n                      <jats:italic>GNPTAB<\/jats:italic>\n                      leukocytes from peripheral blood were used to harvest genomic DNA. Following the 2015 ACMG\/AMP standards, variant interpretation was carried out by evaluating pathogenicity using in\u00a0silico prediction methods, population frequency data, and segregation analysis. Radiological findings were evaluated via skeletal X-rays and brain\u00a0MRI.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0352_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The median age at diagnosis was 8\u00a0months (range:\u00a01\u00a0day\u2013252\u00a0months), with a consanguinity rate of 63.1\u202f%. ML II \u03b1\/\u03b2 patients presented earlier and had more severe findings, including coarse facies, respiratory tract involvement, cardiac abnormalities, and joint contractures. Cardiac valve disease, kyphosis, and progressive hearing loss were frequent. The most common mutation in\u00a0\n                      <jats:italic>GNPTAB<\/jats:italic>\n                      was c.3503_3504delTC in ML II \u03b1\/\u03b2, while\n                      <jats:italic>GNPTG<\/jats:italic>\n                      \u00a0variants were linked to ML III \u03b3. Radiologic findings often included hip dysplasia; brain MRIs showed callosal and subarachnoid abnormalities in a few cases. Median survival in ML II \u03b1\/\u03b2 was 28\u00a0months, mainly due to respiratory\u00a0failure. Enzyme assays revealed elevated \u03b2-hexosaminidase A and A+B, \u03b1-D-mannosidase, and \u03b1-L-fucosidase activities in both leukocyte and DBS samples, consistent with molecular diagnoses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0352_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      In addition to reporting six novel\n                      <jats:italic>GNPTAB\/GNPTG<\/jats:italic>\n                      mutations, this study highlights the diagnostic potential of dried blood spot (DBS) samples, where elevated lysosomal enzyme activity may offer a valuable, minimally invasive screening method for ML II\/III.\n                    <\/jats:p>\n                  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