SynthesisOrphanet journal of rare diseases2026
Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches.
Synthesis in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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3 authors.
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Abstract
backgroundAlpha mannosidosis (AM) is a rare lysosomal storage disorder caused by a deficiency in the α-mannosidase enzyme, resulting in impaired glycoprotein metabolism within lysosomes. Enzyme dysfunction is attributed to an autosomal recessive mutation in the MAN2B1 gene. Affected individuals present with a broad spectrum of manifestations, including developmental delays, cognitive decline, musculoskeletal abnormalities, hearing difficulties, and recurrent infections. Current therapeutic options are limited to hematopoietic stem cell transplantation and the more recently developed enzyme replacement therapy.
objectiveThe aim of this review was to evaluate and compare the therapeutic outcomes, benefits and challenges associated with Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) in the treatment of AM.
methodsA systematic search across PubMed, MEDLINE, EMBASE, the Cochrane Library, OMIM, and ScienceDirect identified 12 original studies from 307 records. The data are presented narratively due to the scarcity of literature and the heterogeneity of study designs and interventions.
resultsA total of 28 patients who received hematopoietic stem cell transplantation showed improvements in preserving neurocognitive function and skeletal stabilization and reduced infection rates, especially when performed at relatively young ages. However, this treatment carries significant risks, including infections, graft-versus-host disease, and increased morbidity and mortality, particularly in older patients. Conversely, enzyme replacement therapy was administered to 75 patients, who demonstrated a favorable safety profile, enhanced respiratory function, reduced skeletal abnormalities, and improved overall quality of life. However, enzyme replacement therapy has limited efficacy in preventing neurocognitive decline and requires lifelong administration.
conclusionBoth interventions yield better outcomes when initiated early, particularly before cognitive deterioration becomes significant. This review emphasizes the importance of a timely diagnosis to optimize treatment outcomes and prevent severe complications.
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