Disease overview

Beta-mannosidosis (β-mannosidosis) is a hereditary neurological disease that is classified as a type of lysosomal storage disease. Lysosomes are important components of cells that are crucial for the breakdown and recycling of waste. If lysosomes do not function properly, waste accumulates and causes cell death. This disease leads to a buildup of a particular sugar in the cells.

Gene name

MANBA

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs appear in puppies and include stiffness, failure to grow, deafness, seizures, and uncoordinated gait.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

, Mixed Breed Dogs

Citations

Jolly RD, Dittmer KE, Garrick DJ, Chernyavtseva A, Hemsley KM, King B, Fietz M, Shackleton NM, Fairley R, Wylie K. β-Mannosidosis in German Shepherd Dogs. Vet Pathol. 2019 Sep;56(5):743-748. doi: 10.1177/0300985819839239. Epub 2019 Apr 14. PMID: 30983534.

Bolfa P, Wang P, Nair R, Rajeev S, Armien AG, Henthorn PS, Wood T, Thrall MA, Giger U. Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization. Mol Genet Metab. 2019 Sep-Oct;128(1-2):137-143. doi: 10.1016/j.ymgme.2019.08.002. Epub 2019 Aug 10. PMID: 31439511; PMCID: PMC6864274.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.