Mucopolysaccharidoses

Hurler’s Syndrome

-Autosomal recessive

-skeletal abnormalities and mental retardation -dwarfism, corneal clouding, hepatosplenomegaly, valvular heart disease

-accumulate heparan sulfate and dermatan sulfate -complete deficiency in ;-L-Iduronidase

-death occurs usually by age 10

Hunter’s syndrome

-X-linked

-skeletal abnormalities and mental retardation

-accumulate heparan sulfate and dermatan sulfate

-complete deficiency in Iduronidase sufatase

-death occurs usually by age 10

Sanfilippo’s Syndrome A

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in heparan-N-sulfatase

Sanfilippo’s Syndrome B

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in α-N-acetyl-glucosaminidase

Sanfilippo’s Syndrome C

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in acetyl-CoA, ;-glucosaminide acyltransferase

Sanfilippo’s Syndrome D

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in N-acetylglucosamine 6-sulfatase

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