Disorder - Mucolipidosis II

Organ Systems Involved
Musculoskeletal

Alternative disorders described within LIDA

Chediak-Higashi syndrome; Fucosidosis, alpha; Gangliosidosis, GM1; Gangliosidosis, GM2; Gangliosidosis, GM2, GM2A deficiency; Glycogen storage disease II; Glycogen storage disease IV; Lysosomal storage disease; Mannosidosis, alpha; Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Neuronal Ceroid lipofuscinosis, Ceroid lipofuscinosis

Alternative Names
ML2; MLII; I-cell disease; ICD; N-acetylglucosamine-1-phosphotrasnferase deficiency

Presenting Signs

Mucolipidosis II is a lysosomal storage disease. This is where enzymes that are normally involved in the breakdown of waste products are erroneously transported out of the cell. With the enzymes removed, waste products are allowed to accumulate when they would normally have been broken down. Waste products are normally excreted from cells, and the accumulation of waste products makes the cells less able to function properly. Skin, cartilage and bone cells in animals with mucolipidosis II are affected. Animals with this condition present with the following physical abnormalities: facial deformities (coarse features), small ears, large paws in relation to body size, abnormal bones and cartilage (called dysostosis multiplex), poor growth, abnormal/uncoordinated walk or stance, extreme stiffness of the skin and spine, arthritis in the hips and eye problems. Affected cats may also be slower or less responsive to stimuli than normal cats (or littermates).

Cats at Risk

Young animals, less than one year old, are most at risk, as all affected cats either die or are euthanased by the age of 12 months. No association with gender or coat colour or breed has been established.

PubMed References
Mucolipidosis II

Contributor
Anita Elise Blake