A type of lysosomal storage disease that is often caused by a deficiency of the enzyme neuramidase resulting in the accumulation of mucolipids in tissues, and thereby leads to symptoms associated with this condition
Mucolipidosis IV is a hereditary metabolic disorder and regarded as one of the many types of lysosomal storage disease. As a lysosomal storage disease, the mucolipidosis IV is characterized by an abnormal accumulation of certain metabolic products due to a deficiency of a particular functional lysosomal enzyme. In this regard, mucolipidosis IV is a disorder caused by a deficiency of the enzyme, neuramidase. The underlying cause of this deficiency is often due to pathological mutations in the MCOLN1 gene. The lack of this enzyme results in the abnormal accumulation of mucolipids in tissues. As a result, the individual with mucolipidosis IV have symptoms such as delayed psychomotor development (such as delayed development of movement and coordination) and ocular defects (such as cloudy corneas and retinal degeneration). Cytological examination of fibroblasts reveals the presence of inclusions.
The MCOLN1 gene codes for mucolipin1, which is a cation channel that is non-selective. Pathological mutation involving this gene would therefore disrupt functions of this enzyme. This condition is inherited in an autosomal recessive pattern.
- mucolipidin 1 deficiency