Mucolipidosis II | Symptoms & Causes
What are the symptoms of mucolipidosis II?
Children born with mucolipidosis II are often small at birth. They often have a weak cry and poor muscle tone (hypotonia). As infants, they grow slowly until their physical development often plateaus around 24 months of age.
Children with mucolipidosis II may also have symptoms such as:
- Delayed physical development
- Delayed cognitive development
- Delayed motor skills
- Skeletal abnormalities
- Abdominal or umbilical hernia
- Joint abnormalities
- Distinct facial features (coarse facial features)
Other symptoms children might experience over time include:
- Hoarse voice due to vocal cord stiffening
- Frequent respiratory infections
- Frequent ear infections leading to hearing loss
- Excessive growth of the gums (gingival hyperplasia)
What causes mucolipidosis II in children?
Mucolipidosis II is caused by a mutation in a gene called GNPTAB, which results in the deficiency of the enzyme GlcNAc-1-phosphotransferase, which lysosomes require to properly break down large molecules inside the body’s cells. This genetic condition is inherited in an autosomal recessive pattern, which means that an affected child has received one defective copy of the GNPTAB gene from each of their parents.
Mucolipidosis II | Diagnosis & Treatments
How is mucolipidosis II treated?
There are currently no approved therapies to reverse the effects of mucolipidosis II. Current approaches involve managing specific symptoms through targeted therapies and collaboration between specialists.
How we care for mucolipidosis II
At the Boston Children’s Lysosomal Storage Disorder (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with mucolipidosis II.
