Mucolipidosis IV

Mucolipidosis IV (ML IV) is a rare inherited lysosomal storage disorder characterized by developmental delays, progressive vision impairment, and impaired production of stomach acid. Unlike many storage disorders, ML IV does not involve mucopolysaccharides or sphingolipids but rather results from abnormal transport of ions and lipids across cell membranes.

The condition is classified as a storage disorder because lysosomes (cellular compartments that break down waste) accumulate abnormal amounts of lipids and other materials. This storage primarily affects cells in the brain, eyes, and stomach. The symptoms typically become apparent in the first year of life.

Most individuals with ML IV show developmental delays by age one, including delayed walking and speech. Motor abilities typically plateau in childhood, and most affected individuals do not walk independently. Vision progressively worsens due to clouding of the corneas and retinal degeneration, often leading to blindness by the teenage years. The inability to produce stomach acid (achlorhydria) can cause iron deficiency and anemia.

ML IV is caused by mutations in the MCOLN1 gene, which encodes a protein called mucolipin-1 that functions as an ion channel in lysosomes. The condition is inherited in an autosomal recessive pattern and is most common among individuals of Ashkenazi Jewish descent, with a carrier frequency of about 1 in 100 in this population. There is currently no specific treatment, though supportive care can address symptoms.

NutraHacker examines the following gene related to Mucolipidosis IV:

• MCOLN1

For more information about your own genetic profile as related to Mucolipidosis IV, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.