Mucolipidosis type IV
G Bach - Molecular genetics and metabolism, 2001 - Elsevier
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder
characterized by psychomotor retardation and ophthalmological abnormalities, including
corneal opacities, retinal degeneration, and strabismus. Severely affected as well as milder
patients have been described. Over 80% of the MLIV patients are Ashkenazi Jews; the
estimated heterozygote frequency in this population is 1/100. The disease is classified as a
mucolipidosis due to the simultaneous lysosomal storage of lipids together with water …
characterized by psychomotor retardation and ophthalmological abnormalities, including
corneal opacities, retinal degeneration, and strabismus. Severely affected as well as milder
patients have been described. Over 80% of the MLIV patients are Ashkenazi Jews; the
estimated heterozygote frequency in this population is 1/100. The disease is classified as a
mucolipidosis due to the simultaneous lysosomal storage of lipids together with water …
