Mucolipidosis IV

Mucolipidosis IV (ML IV) is a rare, inherited lysosomal storage disorder characterized by severe psychomotor retardation, corneal clouding, and retinal degeneration leading to blindness. It results from a deficiency in the MCOLN1 protein, which impairs lysosomal function and leads to the accumulation of various substances within cells.

This code is used for patients diagnosed with Mucolipidosis IV based on clinical findings, genetic testing confirming mutations in the MCOLN1 gene, or biochemical assays showing elevated levels of specific lipids and mucopolysaccharides. It should be assigned when the patient's medical record clearly documents this specific lysosomal storage disorder.

• Ensure documentation specifies "Mucolipidosis IV" to differentiate from other mucolipidoses.
• Genetic testing results or enzyme assay reports are strong supporting documentation.
• Consider sequencing with codes for associated manifestations like intellectual disability or visual impairment.