{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:51:11Z","timestamp":1790419871921,"version":"4.1.0"},"reference-count":29,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T00:00:00Z","timestamp":1572220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We report the case of a boy who was diagnosed with mucopolysaccharidosis (MPS) VII at two weeks of age. He harbored three missense \u03b2-glucuronidase (GUSB) variations in exon 3: two novel, c.422A&gt;C and c.424C&gt;T, inherited from his mother, and the rather common c.526C&gt;T, inherited from his father. Expression of these variations in transfected HEK293T cells demonstrated that the double mutation c.422A&gt;C;424C&gt;T reduces \u03b2-glucuronidase enzyme activity. Enzyme replacement therapy (ERT), using UX003 (vestronidase alfa), was started at four months of age, followed by a hematopoietic stem cell allograft transplantation (HSCT) at 13 months of age. ERT was well tolerated and attenuated visceromegaly and skin infiltration. After a severe skin and gut graft-versus-host disease, ERT was stopped six months after HSCT. The last follow-up examination (at the age of four years) revealed a normal psychomotor development, stabilized growth curve, no hepatosplenomegaly, and no other organ involvement. Intriguingly, enzyme activity had normalized in leukocytes but remained low in plasma. This case report illustrates: (i) The need for an early diagnosis of MPS, and (ii) the possible benefit of a very early enzymatic and\/or cellular therapy in this rare form of lysosomal storage disease.<\/jats:p>","DOI":"10.3390\/ijms20215345","type":"journal-article","created":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T04:44:31Z","timestamp":1572237871000},"page":"5345","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation"],"prefix":"10.3390","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9493-5338","authenticated-orcid":false,"given":"Patricia","family":"Dubot","sequence":"first","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique, Centre de R\u00e9f\u00e9rence en Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Institut F\u00e9d\u00e9ratif de Biologie, CHU de Toulouse, 31059 Toulouse cedex 9, France"},{"name":"INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), Universit\u00e9 Paul Sabatier, 31037 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Sabourdy","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique, Centre de R\u00e9f\u00e9rence en Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Institut F\u00e9d\u00e9ratif de Biologie, CHU de Toulouse, 31059 Toulouse cedex 9, France"},{"name":"INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), Universit\u00e9 Paul Sabatier, 31037 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Plat","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie P\u00e9diatrique, CHU de Toulouse, 31058 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Jubert","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie P\u00e9diatrique, CHU de Bordeaux, 33076 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Canc\u00e8s","sequence":"additional","affiliation":[{"name":"H\u00f4pital des Enfants, Centre de R\u00e9f\u00e9rence en Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, CHU de Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Brou\u00e9","sequence":"additional","affiliation":[{"name":"H\u00f4pital des Enfants, Centre de R\u00e9f\u00e9rence en Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, CHU de Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Touati","sequence":"additional","affiliation":[{"name":"H\u00f4pital des Enfants, Centre de R\u00e9f\u00e9rence en Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, CHU de Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique, Centre de R\u00e9f\u00e9rence en Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Institut F\u00e9d\u00e9ratif de Biologie, CHU de Toulouse, 31059 Toulouse cedex 9, France"},{"name":"INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), Universit\u00e9 Paul Sabatier, 31037 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,10,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0022-3476(73)80162-3","article-title":"Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis","volume":"82","author":"Sly","year":"1973","journal-title":"J. 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