Alpha Mannisidosis (Persian/Domestic Type) Overview
Alpha Mannisidosis (Persian/Domestic Type)
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Breeds Affected: Persian and Domestic Shorthair.
A lysosomal storage disease caused by a deficiency of the enzyme lysosomal alpha-mannosidase. Symptoms (clinical) include infections, skeletal changes, hearing impairment and neurological conditions.
Category: Metabolic - Associated with the enzymes and metabolic processes of cells
Gene: MAN2B1 on Chromosome A2
Variant Detected: Deletion of CCAG
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive
Test Overview: Causes and imbalance of porphyrin metabolism which results in an increase in the formation and excretion of porphyrins - excreted in the urine and faeces. Symptoms include gastrointestinal, neurologic, anemia and enlargement of the spleen. Alpha-mannosidosis (AMD) is caused by deficient activity of lysosomal - mannosidase (LAMAN) that results in defective glycoprotein degradation and the intracellular accumulation of mannose-rich oligosaccharides. Neuropathological findings include vacuolated neurons, glial cells, and endothelial cells throughout the brain and spinal cord; Purkinje cell loss; and myelin deficiency of the CNS and PNS. Meganeurite, neurite sprouting, and axonal spheroids are also described. Hepatocellular swelling occurs. Clinical signs are related to skeletal abnormalities and neurologic signs such as ataxia, dysmetria, head tremors, and visual deficits. Possible other signs are hepatomegaly, stunted growth, and corneal opacities. Mannosidosis is a rare disease that has been described in a domestic shorthaired cat, and Persian kittens. Age of onset of signs is variable; some kittens are stillborn, others may die at a young age. Age of kittens showing clinical signs range from 2 months to 7 months of age.
Vandevelde, M., Fankhauser, R., Bichsel, P., Wiesmann, U., Herschkowitz, N. : Hereditary neurovisceral mannosidosis associated with alpha-mannosidase deficiency in a family of Persian cats. Acta Neuropathol 58:64-8, 1982. Pubmed reference: 7136518.
Yoon, S.Y., Bagel, J.H., O'Donnell, P.A., Vite, C.H., Wolfe, J.H. : Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1. Mol Ther 24:26-33, 2016. Pubmed reference: 26354342. DOI: 10.1038/mt.2015.168.
Associated Breed(s): Persian , Domestic Short Hair, Domestic Medium / Long Hair, Mixed Breed / Unknown Breed (Feline),