Mucolipidoses

Treatment

No cures or specific therapies for ML currently exists.  Therapies are generally geared toward treating symptoms and providing supportive care to the child.  For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye.  However, this improvement may be only temporary.   Physical and occupational therapy may help children with motor delays.  Children with language delays may benefit from speech therapy.    Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for patients with ML IV.  Respiratory infections should be treated immediately and fully with antibiotics.

Prognosis

Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

Research

Discovery of the ML genes is enabling NINDS researchers to study the genes' function and will facilitate studies on drugs that may lead to effective treatments. In addition, investigators at grantee institutions are conducting studies on an animal model, Caenorhabditis elegans, which is frequently used to determine the effects of genetic mutations. Other grantees are using the fruit fly model, Drosophila, to study a mutation in the ML IV gene. And one of the research teams involved in the discovery of the ML IV gene is conducting further genetic studies to explore the normal and abnormal functions of the ML IV gene. Through these and other research efforts, scientists are optimistic that they will one day discover treatments or even prevention strategies for the MLs.

Organizations