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Mucopolysaccharidoses
Diseases caused by enzyme defiencies
6
Chemistry
Professional
10/22/2009

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Cards

Term
Hurler's Syndrome
Definition

-Autosomal recessive

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

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

-death occurs usually by age 10

Term
Hunter's syndrome
Definition

-X-linked

-skeletal abnormalities and mental retardation

-accumulate heparan sulfate and dermatan sulfate

-complete deficiency in Iduronidase sufatase

-death occurs usually by age 10

Term
Sanfilippo's Syndrome A
Definition

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in heparan-N-sulfatase

Term
Sanfilippo's Syndrome B
Definition

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in α-N-acetyl-glucosaminidase

Term
Sanfilippo's Syndrome C
Definition

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in acetyl-CoA, α-glucosaminide acyltransferase

Term
Sanfilippo's Syndrome D
Definition

-Autosomal recessive

-accumulation of heparan sulfate

-minor physical effects, but severe mental retardation

-deficiency in N-acetylglucosamine 6-sulfatase

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