Hurler syndrome; mucopolysaccharidosis-1h; MPS1h
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Pathology
- accumulation of the glycosaminoglycans heparan sulfate & dermatan sulfate
Genetics
alpha-L-iduronidase deficiency
Clinical manifestations
- onset 6-8 months
- dwarfism
- corneal clouding
- hepatosplenomegaly
- cardiovascular
- multi-valvular lesions
- coronary artery disease
- great artery disease
- cardiomyopathy
- skeletal deformities
- joint stiffness
- progressive mental retardation
- obstructive airways disease, respiratory infection & cardiac complications usually result in death before 10 years of age
- phenotype at the severe end of mucopolysaccharidosis-1 (Hurler-Scheie syndrome) clinical spectrum
Laboratory
Management
- hematopoietic stem cell transplantation in conjunction with laronidase therapy[3]
- prognosis: life expectancy is 6-10 years
More general terms
Additional terms
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
- ↑ 3.0 3.1 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