Alpha-Mannosidosis: Disease Overview, Signs and Symptoms, Emerging Therapies

By: | Published on: Dec 20, 2023

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).

The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.

 

Podcast Episodes

December 20, 2023  Length: 28 min

Alpha-Mannosidosis Overview, Featuring Laura Buch, MSPAS, PA-C
In this first part of our four-part series on alpha-mannosidosis, we feature Laura Buch, a physician assistant who practices medical genetics at the Greenwood Genetic Center in South Carolina. Laura’s work focuses on the diagnosis and treatment of patients with abnormal newborn screens, inborn errors of metabolism, and lysosomal storage disorders. She also cares for alpha-mannosidosis patients.

December 20, 2023  Length: 16 min

Signs and Symptoms of Alpha-Mannosidosis, Featuring Reid Sutton, MD

This is the second of a four-part series focusing on alpha-mannosidosis. In this episode, we talk with Dr. Reid Sutton on the challenges of recognizing this rare disease, focusing on the signs and symptoms. Dr. Sutton is a Clinical Geneticist and a Clinical Biochemical Geneticist at Baylor College of Medicine and Texas Children’s Hospital in Houston.

December 20, 2023  Length: 13 min

Diagnosing and Managing Alpha-Mannosidosis, Featuring Markey McNutt, MD, PhD

This is the third of a four-part series focusing on alpha-mannosidosis. In this episode, we feature Dr. Markey McNutt, who will focus on the challenges of identifying and caring for patients with this rare disease. Dr. McNutt is a Clinical Geneticist at the University of Texas Southwestern Medical Center in Dallas.

December 20, 2023  Length: 11 min

Alpha-Mannosidosis From a Mom’s Perspective, Featuring Rhonda Skipper 
In this final episode of our four-part series focused on alpha-mannosidosis, we feature Rhonda Skipper, a mom of two boys, Dale and Matt, who have this rare disease.
 

Videos

Alpha-Mannosidosis Overview
Laura Buch, physician assistant who practices medical genetics at the Greenwood Genetic Center in South Carolina provides an overview of alpha-mannosidosis.
(Video length: 2 minutes)

Signs and Symptoms of Alpha-Mannosidosis
Dr. Reid Sutton, Clinical Geneticist and Clinical Biochemical Geneticist at Baylor College of Medicine and Texas Children’s Hospital in Houston, discusses some of the signs and symptoms of alpha-mannosidosis.
(Video length: 5 minutes)

Diagnosing Alpha-Mannosidosis
Dr. Markey McNutt, Clinical Geneticist at the University of Texas Southwestern Medical Center in Dallas. discusses challenges of diagnosing alpha-mannosidosis.
(Video length: 4 minutes)

Mom’s Perspective of Alpha-Mannosidosis
Rhonda Skipper, a mom of two boys (Dale and Matt) who are living with alpha-mannosidosis.
(Video length: 4 minutes)

 

Additional Resources

Boston Children’s Hospital
NIH: National Center for Advancing Translational Sciences
International Society of Mannosidosis and Related Diseases (ISMRD)
 
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