Mannosidosis is a human lysosomal storage disease caused by and acid alpha-mannosidase deficiency. We have studied two affected Italian families and in this paper discuss the problems concerning the clinical and radiological findings, and laboratory assay as an access to diagnosis. Reference is made to our personal experience, as concerns the difficulties of carrier detection and of prenatal diagnosis.
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MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis.
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Institute of Clinical Medicine Research, Suzhou Hospital, Affiliated Hospital of Medical School, Nanjing University, Lijiang Road No. 1, Suzhou 215153, China.
Glycosylation modifications of proteins and glycan hydrolysis are critical for protein function in biological processes. Aberrations in glycosylation enzymes are linked to lysosomal storage disorders (LSDs), immune interactions, congenital disorders and tumour progression. Mannosidase alpha class 2B member 1 (MAN2B1) is a lysosomal hydrolase from the α-mannosidase family.
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Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Background: α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner. The impairment of affected individuals is multisystemic and very similar to the observed in some mucopolysaccharidosis (MPS) patients. The aim of this study was to search for α-mannosidosis cases in individuals with clinical suspicion of MPS without a confirmed diagnosis.
View Article and Find Full Text PDFOncological Aspects of Lysosomal Storage Diseases.
Cells
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Department of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
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View Article and Find Full Text PDFExtended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis.
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Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Article Synopsis
- Enzyme replacement therapy (ERT) with velmanase alfa demonstrated effectiveness and safety for up to 12 years in patients with alpha-mannosidosis based on a pooled analysis from two multicenter trials.
- In pediatric patients, improvements in six-minute walk test (6MWT) and stair climb test (3MSCT) were observed, while adult patients showed stabilization or slight decline in performance.
- The treatment resulted in sustained clearance of serum oligosaccharides and increased serum immunoglobulin G (IgG) levels, with most adverse events being mild to moderate in severity, indicating that velmanase alfa is generally well-tolerated.
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Mol Genet Metab
August 2024
International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:
Introduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for initial assessment, routine follow-up care, and integrated care coordination of patients with AM.
Methods: A modified Delphi method involving 3 rounds of online surveys was used.
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