{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T02:24:25Z","timestamp":1784859865342,"version":"3.55.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T00:00:00Z","timestamp":1627344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X\u2010linked recessive lysosomal storage disease caused by a mutation in the <jats:italic>IDS<\/jats:italic> gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with idursulfase, but because the enzyme cannot cross the blood\u2010brain\u2010barrier (BBB), it does not address the progressive neurodegeneration and subsequent central nervous system (CNS) manifestations seen in patients with neuropathic MPS\u2010II. However, pabinafusp alfa, a human iduronate\u20102\u2010sulfatase (IDS) fused with a BBB\u2010crossing anti\u2010transferrin receptor antibody, has been shown to be efficacious against both the somatic and CNS symptoms of MPS II. We report two cases of MPS\u2010II in Japanese siblings sharing the same G140V mutation in the <jats:italic>IDS<\/jats:italic> gene, who showed markedly contrasting developmental trajectories following enzyme replacement therapy (ERT). Sibling 1 was diagnosed at 2\u2009years of age, started undergoing conventional ERT shortly afterward, and scored a developmental quotient (DQ) of 53 on the Kyoto Scale of Psychological Development (KSPD) at 4\u2009years of age. Sibling 2 was diagnosed prenatally and received conventional ERT from the age of 1\u00a0month through 1\u00a0year and 11\u2009months, when he switched to pabinafusp alpha. He attained a DQ of 104 at age 3\u2009years and 11\u2009months, along with significant declines in heparan sulfate concentrations in the cerebrospinal fluid. This marked difference in neurocognitive development highlights the importance of early initiation of ERT with a BBB\u2010penetrating enzyme in patients with neuropathic MPS\u2010II.<\/jats:p>","DOI":"10.1002\/jmd2.12239","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T12:31:52Z","timestamp":1627389112000},"page":"9-14","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type <scp>II<\/scp> (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3618-0085","authenticated-orcid":false,"given":"Kazuyoshi","family":"Tomita","sequence":"first","affiliation":[{"name":"Department of Pediatrics Osaka City University Graduate School of Medicine  Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shungo","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka City University Graduate School of Medicine  Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Seto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka City University Graduate School of Medicine  Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Hamazaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka City University Graduate School of Medicine  Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sairei","family":"So","sequence":"additional","affiliation":[{"name":"JCR Pharmaceuticals Co., Ltd.  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