KEGG   DISEASE: Mucopolysaccharidosis type IHelp
Entry
H00128                      Disease                                

Name
Mucopolysaccharidosis type I;
Hurler-Scheie syndrome;
Hurler syndrome;
Scheie syndrome
  Supergrp
Mucopolysaccharidosis [DS:H00421]
Lysosomal storage disease [DS:H01425]
Description
Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. Hurler syndrome is characterized by coarse faces, hydrocephalus, dysostosis multiplex, cardiac valve disease, airway obstruction, and mental retardation. Scheie syndrome is a milder form.
Category
Inherited metabolic disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00128  Mucopolysaccharidosis type I
  Lysosomal storage diseases
   H00128  Mucopolysaccharidosis type I
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00128  Mucopolysaccharidosis type I
BRITE hierarchy
Pathway
hsa00531  Glycosaminoglycan degradation
hsa04142  Lysosome
Network
nt06012  Glycosaminoglycan degradation
  Element
N00613  IDUA deficiency in dermatan sulfate degradation
N00621  IDUA deficiency in heparan sulfate degradation
Gene
(MPS1) IDUA; alpha-L-iduronidase [HSA:3425] [KO:K01217]
Drug
Laronidase [DR:D04670]
Other DBs
ICD-11: 5C56.30
ICD-10: E76.0
MeSH: D008059
OMIM: 607014 607015 607016
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
DOI:10.1016/j.spen.2008.05.005
Reference
  Authors
Diez-Roux G, Ballabio A
  Title
Sulfatases and human disease.
  Journal
Annu Rev Genomics Hum Genet 6:355-79 (2005)
DOI:10.1146/annurev.genom.6.080604.162334
Reference
  Authors
El Dib RP, Pastores GM
  Title
Laronidase for treating mucopolysaccharidosis type I.
  Journal
Genet Mol Res 6:667-74 (2007)

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