Disease overview

Mucolipidosis II is an inherited lysosomal storage disease, similar in presentation to the human disease of the same name. It is caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (GNPTAB), which leads to compromised internalization of acid hydrolases into lysosomes, which hinders the proper catabolism of a variety of substances. The disease is characterized by severe progressive neuropathy and oculoskeletal dysfunction in humans.

Gene name

GNPTAB

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of this disease include a deformed face and body and failure to thrive at birth. As they age, affected kittens will display an inability to grow normally and an overall lethargy compared to normal kittens. In the end stages of this disease, it is either fatal or kittens will need to be euthanized.

How is it diagnosed

Because this disease is rare, there is no established diagnostic process. A presumptive diagnosis is made based off of clinical signs and can be confirmed via a genetic test.

Breeds at higher risk

Current data does not indicate that specific breeds are at a higher risk.

Citations

https://pubmed.ncbi.nlm.nih.gov/30591066/

Disclaimer

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