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Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches
Arezki Azzi1, Reem Bin Shlhoob2, Hassan Al-Shehri3
1Department of Biochemistry, College of Medicine, Imam Mohammad Ibn Saud Islamic University (IMSIU), P.O. Box 7544, Riyadh, 4233-13317, Saudi Arabia. Arazzi@gmail.com.
Background:
Alpha 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.
Objective:
The 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.
Methods:
A 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.
Results:
A 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.
Conclusion:
Both 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.
Insights
Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) show benefits for alpha mannosidosis (AM) patients. Early intervention is key for both treatments to improve outcomes and prevent severe complications in this rare genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Medical Genetics
Background:
- Alpha mannosidosis (AM) is a rare lysosomal storage disorder due to alpha-mannosidase enzyme deficiency, impacting glycoprotein metabolism.
- Caused by autosomal recessive MAN2B1 gene mutations, AM manifests with developmental delays, cognitive decline, skeletal issues, hearing loss, and infections.
- Current treatments include hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT).
Purpose of the Study:
- To evaluate and compare therapeutic outcomes, benefits, and challenges of HSCT and ERT for AM treatment.
- To synthesize current evidence on the efficacy and safety of existing AM therapies.
Main Methods:
- A systematic literature search was conducted across major databases (PubMed, MEDLINE, EMBASE, Cochrane Library, OMIM, ScienceDirect).
- 12 relevant studies were identified from 307 records.
- Data were analyzed and presented narratively due to limited studies and heterogeneity.
Main Results:
- HSCT (28 patients) improved neurocognition, skeletal stabilization, and reduced infections, especially in younger patients, but carries risks like GvHD and mortality.
- ERT (75 patients) showed a favorable safety profile, improving respiratory and skeletal issues and quality of life, but has limited impact on neurocognitive decline and requires lifelong treatment.
- Both HSCT and ERT demonstrated better outcomes when initiated early.
Conclusions:
- Early diagnosis and intervention are crucial for optimizing treatment outcomes in AM.
- Both HSCT and ERT offer benefits but have distinct risk-benefit profiles, necessitating individualized treatment strategies.
- Further research is needed to address the limitations of current therapies and improve long-term management of AM.
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