Mucolipidosis is a group of inherited lysosomal storage disorders which is being caused by mutations in the genes. There are 4 types of mucolipidosis. In each type a certain enzyme is missing or not working properly. These enzymes are needed to properly break down certain substances such as lipids. As a result, these substances accumulate in the cells which leads to damage of multiple organs.   

Mucolipidosis are classified in 4 different types:

1. Mucolipidosis type I (MLI), also known as sialidosis
2. Mucolipidosis type II (I-Cell disease)
3. Mucolipidosis type III, also known as pseudo-Hurler-syndrome
4. Mucolipidosis type IV (MLIV)

All types of mucolipidosis are extremely rare.  Because of this, good incidence rates are not known. More research is needed. 

Mucolipidosis is an autosomal recessive inherited metabolic disorder. Autosomal recessive means that in order to have the disorder, the child needs to inherit two copies of the affected gene from both parents. Which gene is affected depends on the type of mucolipidosis.   

• In mucolipidose type I the NEU1 gene is affected which causes a deficiency of the neuraminidase enzyme. 
• In mucolipidose type II en III two genes are affected, the GNPTAB and GNPTG gene. 
• In mucolipidose type IV the MCOLN1 gene is affected. 

• Mucolipidose type I: Sialidosis.
  Sialidosis usually has its onset during childhood to young adulthood. It starts with vision problems and walking problems. 
• Mucolipidose type II: I-Cell disease.
  In this type the symptoms start at birth. After birth, babies present with bone abnormalities and high parathyroid hormone levels.
• Mucolipidose type III: pseudo-Hurler syndrome.
  This type has similar clinical features as Hurler syndrome (MPS I), but in general much milder and not until later in life. 
• Mucolipidose type IV.
  This type has its onset in the first year of life and presents with a progressive delay in the development of mental and motor skills. Vision becomes impaired during the first years and patients have clouding of the cornea and retinal damage. Also, patients may develop anemia due to the lack of iron in their blood. 

If the doctor suspects that you or your child has mucolipidosis, he or she will do a number of tests to help make the diagnosis. The following tests may be involved:

Unfortunately, there is not curative treatment available for mucolipidosis. Treatment consistst mainly of controlling the symptoms.  

Patients with mucolipidosis need to be followed their whole life by a physician. Because multiple organs are affected in mucolipidosis, patients will see different specialist. 

Our scheduling coordinator will schedule appointments for you. To minimize hospital visits for you and/or your child, we will try to schedule appointments with different specialists on the same day whenever possible. 

Please also visit our team page to meet our specialists.