Mucolipidosis Type IV
Mucolipidosis Type lV (MLlV) is characterized by an abnormal buildup of fatty materials (lipids) in the cells, leading to organ and nerve damage. Children with MLIV appear normal at birth but develop signs of central nervous system deterioration during the first year of life. Symptoms include progressive mental and motor retardation and eye disorders. Many patients never walk.
Because MLIV wasn't recognized until 1974, little is known about prognosis and life expectancy beyond 30 years of age.
Approximately 1 in 125 Ashkenazi Jews is a carrier of Mucolipidosis Type IV. Testing for two mutations provides a carrier detection rate of approximately 96%.
More information on Mucolipidosis Type lV from the Mount Sinai School of Medicine