Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 1
Definition
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).
Also known as Alpha-L-iduronidase deficiency, lipochondrodystrophy, MPS1, MPSI, mucopolysaccharidosis type 1, Mucopolysaccharidosis Type I — per MONDO