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Mucolipin Deficiency (ML IV) is caused by the abnormal transport of lysosomal enzymes in the cell, resulting in the absence of many of these enzymes and the accumulation of ganglioside and mucopolysaccharide in the lysosome. ML IV is most commonly seen in those with an Eastern European Jewish background and presents with mental and psychomotor retardation, diminished muscle tone, corneal clouding and retinal degeneration which can lead to severely impaired vision. Children with the disease generally reach a maximum developmental age of 15 months, with little degeneration after that point. Prognosis beyond the third decade of life and the life expectancy for those afflicted with ML IV are unknown, though death does not typically occur in early childhood as in some other lysosomal storage diseases. |