Internal Medicine

(Wang) #1

0521779407-14 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:16


Mucopolysaccharidoses 1001

■MPS Type: II
➣Syndrome: Hunter
➣Enzyme deficiency: iduronate sulfatase
➣MPS excretion: DS, HS
■MPS Type: IIIA
➣Syndrome: Sanfilippo type A
➣Enzyme deficiency: heparan N-sulfatase
➣MPS excretion: HS
■MPS Type: IIIB
➣Syndrome: Sanfilippo type B
➣Enzyme deficiency: alpha-N-acetylglucosaminidase
➣MPS excretion: HS
■MPS Type: IIIC
➣Syndrome: Sanfilippo type C
➣Enzyme deficiency: acetyl CoA: alpha-D-glucosaminidine-N-
acetyl transferase
➣MPS excretion: HS
■MPS Type: IIID
➣Syndrome: Sanfilippo type D
➣Enzyme deficiency: N-acetyl-alpha-D-glucosaminidine-6-sulfa-
tase
➣MPS excretion: HS
■MPS Type: IVA
➣Syndrome: Morquio type A
➣Enzyme deficiency: N-acetylgalactosamine-6-sulfatase
➣MPS excretion: KS, C6S
■MPS Type: IVB
➣Syndrome: Morquio type B
➣Enzyme deficiency: beta-galactosidase
➣MPS excretion: KS
■MPS Type: VI
➣Syndrome: Maroteaux-Lamy
➣Enzyme deficiency: N-acetylgalactosamine-4-sulfatase
➣MPS excretion: DS, C4S
■MPS Type: VII
➣Syndrome: Sly
➣Enzyme deficiency: beta-glucuronidase
➣MPS excretion: DS, HS, CS
■MPS Type: IX
➣Syndrome: Natowicz
➣Enzyme deficiency: hyaluronidase
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