Hurler-Scheie syndrome; mucopolysaccharidosis-1 & 5; Pfaundler Hurler syndrome; MPS1; MPS5

Pathology

• accumulation of glycosaminoglycans heparan sulfate & dermatan sulfate

Genetics

• associated with defects in alpha-L-iduronidase

Clinical manifestations

• most of the somatic symptoms described for severe develop in the early to mid-teens, causing considerable loss of mobility
• dwarfism to normal stature
• corneal clouding
• hepatosplenomegaly
• valvular lesions
• skeletal deformities
• joint stiffness
• relatively little neurological involvement
  • progressive mental retardation?
• represents an mild-intermediate phenotype of mucopolysaccharidosis-1 clinical spectrum

Laboratory

• IDUA gene mutation
• alpha-L-iduronidase in fibroblasts
• alpha-L-iduronidase in leukocytes

Management

• Aldurazyme
• prognosis: Life expectancy: 6-10 years

More general terms

• mucopolysaccharidosis (MPS)

More specific terms

• Hurler syndrome; mucopolysaccharidosis-1h; MPS1h
• Scheie syndrome; mucopolysaccharidosis-1s; MPS1s

Database

• OMIM: https://mirror.omim.org/entry/607015
• OMIM: https://mirror.omim.org/entry/607016