MPS I - Hurler syndrome (HS-GAG degradation)

Stable Identifier
R-HSA-2206302
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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MPS I - Hurler syndrome (HS-GAG degradation)
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Mucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where there is a deficiency of alpha-L iduronidase (IDUA, MIM:252800), a glycosidase that removes non-reducing terminal alpha-L-iduronide residues during the lysosomal degradation of the glycosaminoglycans heparan sulphate and dermatan sulphate (McKusick 1959). In 1992, Scott and colleagues were able to clone and purify the gene that encodes this enzyme, IDUA, demonstrating that it spans approximately 19 kb and contains 14 exons (Scott et al. 1992).
Hurler syndrome is named after a German paediatrician Gertrud Hurler (1919, no reference available). The result is build up of heparan sulfate and dermatan sulfate in the body and increased urinary excretion of these GAGs. Symptoms and signs include hepatosplenomegaly, dwarfism, unique facial features, corneal clouding, retinopathy, progressive mental retardation appears during childhood and early death can occur due to organ damage (Campos & Monaga 2012). MPS I is divided into three subtypes, ranging from severe to mild phenotypes; Mucopolysaccharidosis type IH (MPSIH, Hurler syndrome, MIM:607014), mucopolysaccharidosis type IH/S (MPSIH/S, HurlerScheie syndrome, MIM: 607015) and mucopolysaccharidosis type IS (MPSIS, Scheie syndrome, MIM: 607016) respectively (McKusick 1972).
Literature References
PubMed ID Title Journal Year
1505961 Structure and sequence of the human alpha-L-iduronidase gene

Scott, HS, Guo, XH, Hopwood, JJ, Morris, CP

Genomics 1992
22527994 Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms

Campos, D, Monaga, M

Metab Brain Dis 2012
4112371 Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

McKusick, VA, Howell, RR, Hussels, IE, Neufeld, EF, Stevenson, RE

Lancet 1972
13629198 Hereditary disorders of connective tissue

McKusick, VA

Bull N Y Acad Med 1959
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
mucopolysaccharidosis I DOID:12802 Lipochondrodystrophy, Mucopolysaccharidosis, type 1, Mucopolysaccharidosis, MPS-I (disorder), Mucopolysaccharidosis type I [Ambiguous], iduronidase deficiency disease
Cross References
Mondo
Authored
Jassal, B  (2012-04-26)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Ashworth, J  (2012-08-28)
Matthews, L  (2025-05-28)
Created
Jassal, B  (2012-04-26)
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