Mucolipidosis II Alpha/beta

What is Mucolipidosis II Alpha/beta?

Mucolipidosis II syndrome is a rare genetic condition that affects multiple parts and systems of the body.

It is also known as I-cell disease, and as a lysosomal storage disorder.

It is a progressive disorder meaning symptoms worsen with time.

What gene changes cause Mucolipidosis II Alpha/beta?

Mutations to the GNPTAB 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. The buildup of these molecules in the body tissue triggers the symptoms of the syndrome.

What are the main symptoms of Mucolipidosis II Alpha/beta?

Babies with Mucolipidosis II are usually born small, with a weak cry and noticeably weak muscle tone.

Throughout infancy and childhood they will present with delayed development- physical and motor.
Individuals with Mucolipidosis II often have what is referred to as distinct or coarse facial features.

Skeletal and joint abnormalities are common in individuals with the syndrome. As are hernias, born umbilical and abdominal.

Other health conditions associated with the syndrome include frequent respiratory infections, frequent rear infections often resulting in hearing loss, a hoarse voice due to a stiffening of the vocal cords and excessive growth of the gums.

How does someone get tested for Mucolipidosis II Alpha/beta?

The initial testing for Mucolipidosis II Alpha/beta syndrome 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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