Mucolipidosis type IV
| Mucolipidosis type IV | |
|---|---|
| Specialty | Neurology, Ophthalmology |
| Symptoms | Psyochomotor retardation; corneal opacity; retinal degradation; agenesis of the corpus callosum; achlorhydria |
| Usual onset | Within first year of life |
| Duration | Stable 2-3 devades after onset; progression slow |
| Causes | MCOLN1 gene mutations; defective cation channel |
| Treatment | Iron supplements (anemia); corneal transplantation |
| Frequency | Under-diagnosed; carrier frquency 1:100 |
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.