Neurology · Neurology / Metabolic disease; Pediatric neurology
Mucopolysaccharidosis type I with neurological involvement
also: Hurler syndrome; Scheie syndrome
Lysosomal storage disease with alpha-L-iduronidase deficiency.
- Specialty
- Neurology
- Subspecialty
- Neurology / Metabolic disease; Pediatric neurology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy to adolescence
- Gene(s) involved
- IDUA
- Alternative names & eponyms
- Hurler syndrome; Scheie syndrome
Etiology & mechanism
IDUA mutation.
Gene(s) involved (1)
Symptoms & signs (3)
In plain terms, someone with Mucopolysaccharidosis type I with neurological involvement may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Mucopolysaccharidosis type II with neurological involvement
coarse features, cognitive decline
1 shared
CARASIL
cognitive decline
1 shared
Cobalamin C syndrome
hydrocephalus
1 shared
Crouzon syndrome
hydrocephalus
1 shared
Dandy–Walker malformation
hydrocephalus
1 shared
Fragile X-associated tremor/ataxia syndrome
cognitive decline
1 shared
Hereditary spastic paraplegia type 1
hydrocephalus
1 shared
Hereditary spastic paraplegia type 15
cognitive decline
1 shared
Huntington disease phenocopy syndrome
cognitive decline
1 shared
Lhermitte–Duclos syndrome
hydrocephalus
Loading…
Loading…