mucolipidosis III gamma
What is Mucolipidosis III Gamma?
Mucolipidosis III gamma is an inherited lysosomal storage disorder that slowly progress over time. People with Mucolipidosis III gamma lack an enzyme called GlcNAc-1-phosphotransferase which is important for the proper functioning of lysosomes, the digestive system of the cell.
Mucolipidosis III gamma is primarily associated with progressive skeletal abnormalities. Joint stiffness, loss of flexibility, and pain are typically the first symptoms to present in early childhood; the fingers, shoulders, and hips are particularly impacted. Other skeletal abnormalities include slow growth, short stature (short height), osteoporosis (low bone mineral density) that may cause an increased risk for fractures, scoliosis (spinal curvature, and gradual mild coarsening of facial features.
Other symptoms include heart valve abnormalities, problems with the ribs which may impact lung function, and clouding of the cornea in the eyes. Many individuals will develop thickened facial features (broad nose, large tongue, and thick lips). The majority of individuals have intellectual ability within the normal range, but mild intellectual disability has been reported.
How common is Mucolipidosis III Gamma?
Mucolipidosis III gamma is a rare disorder, its exact incidence is unknown.
How is Mucolipidosis III Gamma treated?
There is no cure for mucolipidosis III gamma and no known treatments to slow the limitations caused by progressive stiffness of the joints. Treatment may include pain management and/or physical therapy. Surgery may be done if hip replacement or heart valve replacement is necessary.
What is the prognosis for a person with Mucolipidosis III Gamma?
Mucolipidosis III gamma is a progressive condition that causes problems with mobility and accompanying pain. Individuals affected with mucolipidosis III gamma have survived into adulthood, but prognosis is difficult to predict due to the rarity of the condition.