As in Mucolipidosis II, Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase (N-acetylglucosamine-1-phosphotransferase). However, ML III produces less severe symptoms and progresses more slowly, probably because the defect in GlcNAc phosphotranspherase lies in its protein recognition domain. Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the inclusion bodies.
Pseudo-Hurler polydystrophy
Ghosal hematodiaphyseal dysplasia
Acrocephalosyndactylia
Craniodiaphyseal dysplasia
Hemifacial microsomia
Parastremmatic dwarfism
Mesomelia
Trismus pseudocamptodactyly syndrome