Hurler-Scheie syndrome; mucopolysaccharidosis-1 & 5; Pfaundler Hurler syndrome; MPS1; MPS5

Pathology: - accumulation of glycosaminoglycans heparan sulfate & dermatan sulfate Genetics: - associated with defects in alpha-L-iduronidase Clinical manifestations: 1) most of the somatic symptoms described for severe develop in the early to mid-teens, causing considerable loss of mobility 2) dwarfism to normal stature 3) corneal clouding 4) hepatosplenomegaly 5) valvular lesions 6) skeletal deformities 7) joint stiffness 8) relatively little neurological involvement - progressive mental retardation? 9) represents an mild-intermediate phenotype of mucopolysaccharidosis-1 clinical spectrum Laboratory: - IDUA gene mutation - alpha-L-iduronidase in fibroblasts - alpha-L-iduronidase in leukocytes Management: - Aldurazyme - prognosis: Life expectancy: 6-10 years

Related

dermatan sulfate heparan sulfate iduronidase

Specific

Hurler syndrome; mucopolysaccharidosis-1h; MPS1h Scheie syndrome; mucopolysaccharidosis-1s; MPS1s

Properties

ACCUMULATION: heparan sulfate dermatan sulfate DEFICIENCY: iduronidase

References

Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383