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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!