Mucolipidosis Type IV

What is Mucolipidosis Type IV?

Mucolipidosis Type IV is a rare genetic condition first identified in 1974. Between then and 2010 only around 70 cases have been diagnosed.

70% of the cases of the syndrome are in individuals of Ashkenazi Jewish ancestry.

This lysosomal storage syndrome is metabolic and progressive. Characteristic features of the syndrome include delayed psychomotor development and visual impairment.

What gene changes cause Mucolipidosis Type IV?

Mutations in the MCOLN1 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.


The syndrome is a lysosomal storage disease caused by a deficiency of arylsulfatase B (ASB) caused by mutations in the ARSB gene on chromosome 5.

What are the main symptoms of Mucolipidosis Type IV?

Typical Mucolipidosis Type IV is the severe form of the disorder and can cause serious symptoms. The atypical form of the disorder is much less severe and symptoms can vary widely between individuals.

Symptoms generally appear leading to a diagnosis in infancy, depending on their severity. These symptoms include poor muscular and mental coordination and reduced muscle tone.

Physical characteristics of the disorder include clouding of the cornea, retinal degeneration, crossed eyes, puffy eyelids, myopia and a hyper sensitivity to light.

How does someone get tested for Mucolipidosis Type IV?

The initial testing for Mucolipidosis Type IV can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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