Alpha-Mannosidosis: Causes, Symptoms, Diagnosis, and Treatment

Alpha-Mannosidosis is a rare inherited lysosomal storage disorder caused by a deficiency of the alpha-mannosidase enzyme. This leads to the accumulation of complex sugars in cells, affecting multiple organs and causing progressive physical and neurological impairments.

What is Alpha-Mannosidosis?

Alpha-mannosidosis is a rare genetic disorder that affects the body’s ability to break down certain complex sugars.

This is due to a genetic mutation in the MAN2B1 gene, which leads to an enzyme deficiency of alpha-mannosidase.

Without this enzyme, dangerous sugar molecules accumulate inside cells, causing progressive damage to the immune system, brain, bones, and hearing, among other organs.

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Symptoms of Alpha-Mannosidosis

The symptoms of alpha-mannosidosis can vary depending on the severity of the condition. Some children show early signs, while others develop symptoms later in life.

Common Symptoms Include:

Intellectual disability and learning difficulties
Developmental delays (delayed speech and motor skills)
Coarse facial features (broad nose, thick lips)
Hearing loss, which may worsen over time
Skeletal abnormalities, such as joint stiffness and spinal deformities
Enlarged liver and spleen, leading to digestive issues
Recurrent infections, due to a weakened immune system
Speech difficulties, caused by muscle weakness and hearing loss
Respiratory issues, including frequent lung infections

Causes of Alpha-Mannosidosis

A genetic mutation in the MAN2B1 gene is the main cause of alpha-mannosidosis. The alpha-mannosidase enzyme, which is in charge of breaking down particular complex sugars in the body, is deficient as a result of this mutation. These sugars build up inside cells due to an inability to metabolize them, which gradually damages the cells.

Key Causes:

Alpha-mannosidosis genetic mutation (MAN2B1 gene)
Alpha-mannosidosis enzyme deficiency, leading to sugar buildup

Diagnosis of Alpha-Mannosidosis

Early diagnosis is crucial for managing the condition effectively. Doctors use a combination of clinical symptoms, genetic tests, and enzyme activity assays to confirm alpha-mannosidosis diagnosis.

Diagnostic Tests Include:

Genetic testing to detect MAN2B1 gene mutations
Enzyme activity assays to measure alpha-mannosidase levels
Urine analysis to check for abnormal sugar compounds
MRI or CT scans to assess brain abnormalities
Physical examination to check for characteristic symptoms

Types of Alpha-Mannosidosis

Alpha-mannosidosis can present in different forms, with symptoms ranging from mild to severe.

Type I: Mild symptoms, usually appearing later in childhood
Type II: Moderate to severe symptoms, including intellectual disability and skeletal abnormalities
Type III: A more severe form with early-onset developmental delays and physical complications

Risk Factors for Alpha-Mannosidosis

Since alpha-mannosidosis is inherited, the biggest risk factor is having a family history of the disease.

Key Risk Factors:

Genetic factors (mutation in MAN2B1 gene)
Family history of alpha-mannosidosis
Consanguineous marriages (increased risk of inherited disorders)

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Treatment for Alpha-Mannosidosis

While there is no complete cure, several treatment options can help manage symptoms and improve quality of life.

Common Alpha-Mannosidosis Treatment Approaches:

Enzyme Replacement Therapy (ERT):

- Aims to replace the missing enzyme to slow disease progression.
- Helps manage symptoms like hearing loss and immune dysfunction.

Symptomatic Treatment:

- Medications to manage infections, bone problems, and organ dysfunction.

Alpha-Mannosidosis Bone Marrow Transplant (Hematopoietic Stem Cell Transplant - HSCT):

- Can slow disease progression by restoring normal enzyme function.
- Often recommended for severe cases diagnosed early.

Physical and Occupational Therapy:

- Helps improve muscle strength, mobility, and coordination.
- Supports independent daily activities.

Genetic Counseling:

- Helps families understand the inheritance pattern of alpha-mannosidosis.
- Provides guidance for future pregnancies and early diagnosis.

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Frequently Asked Questions

Yes, prenatal tests like amniocentesis or CVS can detect Alpha-Mannosidosis genetic mutation. Genetic counseling is recommended for families with a history of the condition to enable early diagnosis and intervention.

Alpha-Mannosidosis enzyme deficiency leads to sugar buildup in cells, causing nerve damage, skeletal issues, and immune dysfunction. Without treatment, symptoms worsen, affecting movement, cognition, and overall health.

Alpha-Mannosidosis life expectancy depends on severity. Some individuals live into adulthood with mild symptoms, while severe cases face early complications. Early diagnosis and treatment improve quality of life and longevity.

Alpha-Mannosidosis bone marrow transplant helps produce missing enzymes, slowing disease progression. However, it’s not a cure, and patients still require supportive care like therapy and regular medical monitoring.

Regular physical therapy, speech therapy, and proper nutrition improve mobility and communication. A multidisciplinary team of specialists in genetics, neurology, and rehabilitation helps manage symptoms effectively.