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Mucopolysacharidoses
USMLE Step 1 - Biochem
Disease | Deficient enzyme, Findings |
---|---|
Hurler's syndrome (autosomal recessive) | alpha-L-iduronidase; developmental delay (mental retardation), gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly, MI, dwarfing, increase in heparan & dermatan sulfate |
Scheie Syndrome (autosomal recessive) | alpha-L-iduronidase (different mutation from Hurler's); mildest form of mucopolysaccharidosis Type 1, causes corneal clouding, nml intelligence, aortic valve disease, stiff joints, also accumulation of heparan & dermatan sulfate (different ratios) |
Hunter's syndrome (X-linked recessive) | iduronate sulfatase; mild Hurler's + aggressive behavior, no corneal clouding, mental retardation & various physical deformities, accumulation of heparan & dermatan sulfate (different ratios) |