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Hurler syndrome; mucopolysaccharidosis-1h; MPS1h
Pathology:
- accumulation of the glycosaminoglycans heparan sulfate & dermatan sulfate
Genetics: alpha-L-iduronidase deficiency
Clinical manifestations:
1) onset 6-8 months
2) dwarfism
3) corneal clouding
4) hepatosplenomegaly
5) cardiovascular
a) multi-valvular lesions
b) coronary artery disease
c) great artery disease
d) cardiomyopathy
6) skeletal deformities
7) joint stiffness
8) progressive mental retardation
9) obstructive airways disease, respiratory infection & cardiac complications usually result in death before 10 years of age
10) phenotype at the severe end of mucopolysaccharidosis-1 (Hurler-Scheie syndrome) clinical spectrum
Laboratory:
- IDUA gene mutation
Management:
1) hematopoietic stem cell transplantation in conjunction with laronidase therapy [3]
2) prognosis: life expectancy is 6-10 years
Related
dermatan sulfate
heparan sulfate
Scheie syndrome; mucopolysaccharidosis-1s; MPS1s
General
Hurler-Scheie syndrome; mucopolysaccharidosis-1 & 5; Pfaundler Hurler syndrome; MPS1; MPS5
Properties
ACCUMULATION: heparan sulfate
dermatan sulfate
DEFICIENCY: alpha-L-iduronidase
Database Correlations
OMIM 252800
MORBIDMAP 252800
References
- Cotran et al Robbins Pathologic Basis of Disease,
W.B. Saunders Co, Philadelphia, PA 1989 pg 150
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- Grewal SS et al,
Safety and efficacy of enzyme replacement therapy in combination
with hematopoietic stem cell transplantation in Hurler syndrome.
Genet Med 7:143, 2005