Catalog

Mucolipidosis type 3

No MMS code

Link to WHO Definition

Mucolipidosis type 3 – http://id.who.int/icd/entity/1736525440

Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses.