Mucolipidosis

What is Mucolipidosis?

It is a group of metabolic diseases, also known as lysosomal storage diseases, all of which are inherited. There are four main types of Mucolipidosis diseases.

They affect the body’s renewal of material within cells. This in turn leads to a build up of higher than normal levels of carbohydrates and lipids (fatty materials) in the cells. This then creates damage to the cells and triggers the symptoms related to mucolipidosis syndromes.

In some affected individuals the symptoms are present at birth, in early childhood or eventually during adolescence. The main symptoms, including intellectual disability, are progrssive and may worsen with time.

What gene changes cause Mucolipidosis?

A genetic defect is responsible for causing the syndrome.The genes responsible include, GNPTAB, GNPTAG, and MCOLN1. Affected individuals are born with an inability to produce enough enzymes to break down carbohydrates and lipids.

These rare diseases are 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.

What are the main symptoms of Mucolipidosis?

The symptoms vary according to the type of Mucolipidosis an individual has.

Mucolipidosis type I (ML I): swelling over the whole body usually present at birth, large tongue, flat nasal bridge, and enlarged gums. Other symptoms include skeletal abnormalities, seizures, tremors, failure to thrive and respiratory infections. Life expectancy is rarely beyond one year.

Mucolipidosis types II and III (ML II and ML III): symptoms of type II of the disease are often severe. They include coarse facial features, skeletal abnormalities, enlarged liver and spleen, short-trunk dwarfism and recurrent respiratory infections. Life expectancy with this type is generally below 7 years.

Symptoms of type III include skeletal abnormalities, coarse facial features and closing of the corneas. This is the most mild form of the disease, and affected individuals generally have normal intellectual ability. Life expectancy reaches into adulthood.

Mucolipidosis type IV (ML IV): main symptoms include gross motor delay, most affected individuals are not able to walk independently. Impaired vision is another major symptom. In some cases affected individuals may have even milder symptoms.

How does someone get tested for Mucolipidosis?

The initial testing for Mucolipidosis 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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