Takanobu Otomo
   Department   Kawasaki Medical School  Kawasaki Medical School, Department of Molecular and Genetic Medicine,
   Position   Professor
Article types 総説
Language English
Peer review Peer reviewed
Presence of invitation Invited paper
Title Mucopolysaccharidosis-Plus Syndrome.
Journal Formal name:International journal of molecular sciences
Abbreviation:Int J Mol Sci
ISSN code:14220067/14220067
Domestic / ForeginForegin
Volume, Issue, Page 21(2),pp.421
Author and coauthor Vasilev Filipp, Sukhomyasova Aitalina, Otomo Takanobu
Authorship Last author,Corresponding author
Publication date 2020/01
Summary Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes-mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient's skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) and two patients from Turkey. Clinical features of MPSPS patients are similar to conventional mucopolysaccharidoses (MPS). In addition to typical symptoms for conventional MPS, MPSPS patients developed other features such as congenital heart defects, renal and hematopoietic disorders. Diagnosis generally requires evidence of clinical picture similar to MPS and molecular genetic testing. Disease is very severe, prognosis is unfavorable and most of patients died at age of 10-20 months. Currently there is no specific therapy for this disease and clinical management is limited to supportive and symptomatic treatment.
DOI 10.3390/ijms21020421
PMID 31936524