title: Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.
abstract: Mucolipidosis (ML) II alpha/beta is an autosomal recessive disease caused by reduced enzyme activity of N-acetylglucosamine-1-phosphotransferase. Clinical symptoms of ML II are severe psychomotor delay and dysostosis multiplex; death usually occurs by 5-8 years of age from cardiopulmonary complications. Allogeneic hematopoietic stem cell transplantation (HSCT) has been attempted for ML; however, few reports have documented the detailed outcomes of HSCT for ML. A 26-month-old girl received a human leukocyte antigen 3/6-allele-matched transplant from cord blood. The preparative regimen consisted of fludarabine, cyclophosphamide, 6-Gy total body irradiation, and rabbit antithymocyte globulin. Although comparing before and after cord blood transplantation results, we observed that lysosomal enzyme activities in the plasma decreased by approximately 20-40%. Low serum levels of immunoglobulin A, G2, and G4 were also observed before HSCT; however, these values normalized after transplantation. Despite undergoing HSCT, she was treated twice for bacterial pneumonia with acute respiratory distress syndrome at ages 37 and 38 months. Although HSCT effects on the clinical manifestations were limited, laboratory data including plasma lysosomal enzyme activities and serum levels of immunoglobulin showed improvement.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Takumi
authors.initials: T
authors.lastname: Shibazaki
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Hirabayashi
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Saito
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Tomonari
authors.initials: T
authors.lastname: Shigemura
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yozo
authors.initials: Y
authors.lastname: Nakazawa
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sakashita
authors.affiliation: Department of Pediatrics, Okaya Municipal Hospital, Okaya, Japan.
authors.forename: Mineo
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Division of Hematology/Oncology, Nagano Children's Hospital, Azumino, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Shiohara
authors.affiliation: Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Adachi
authors.affiliation: Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D000818:Animals; D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation; D003520:Cyclophosphamide / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D009081:Mucolipidoses / Q000097:blood / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D011596:Psychomotor Disorders / Q000097:blood / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D011817:Rabbits; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics*; D014184:Transplantation, Homologous; D014740:Vidarabine / Q000008:administration & dosage / Q000031:analogs & derivatives
chemical_list: D007136:Immunoglobulins; D003520:Cyclophosphamide; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase; D014740:Vidarabine; C024352:fludarabine
keywords: cord blood transplantation; mucolipidosis II; plasma lysosomal enzyme activity; psychomotor development