Enfermedad de sobrecarga lisosomal glicolipídica en un potrillo Morgan

Abstract

Lysosomal storage diseases are a group of inherited and acquired disorders affecting mammals and birds in which specific substrates accumulate in lysosomes as a result of deficient activity of lysosomal hydrolases. Progressive accumulation of these substrates due to abnormal lysosomal enzymatic degradation results in impairment of cell function and eventually cell death. Multisystemic involvement is common in these disorders so many cell types from a variety of organs and tissues can be affected. Most affected ones would be those with a high turnover of the substrate in question. Neurons are usually involved in these disorders. To date, there are only two published reports of lysosomal storage diseases in horses: a neuronal ceroid lipofuscinosis of presumptive inherited nature, and an acquired mannosidosis associated with the ingestion of the toxic plant Sida carpinifolia. In this case report, the preliminary results of a study about a previously unrecognized lysosomal storage disease in horses are presented.