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. 2018 Dec 13;148(5):639–651. doi: 10.1111/jnc.14632

Table 1.

Mucopolysaccharidoses are classified into several subtypes

Type Eponym Enzyme deficiency GAG Symptoms
MPSI Hurler
Hurler‐Scheie
Scheie
α‐l‐iduronidase DS/HS Coarse facial features
Short stature
+/−Cognitive decline
Skeletal abnormalities
Hepatosplenomegaly
Joint stiffness
Cardio‐respiratory disease
Recurrent infection
MPSII Hunter Iduronate‐2‐sulfatase DS/HS Coarse facial features
Short stature
+/−Cognitive decline
Skeletal abnormalities
Joint stiffness
Hepatosplenomegaly
Cardio‐respiratory disease
MPSIII Sanfilippo A
Sanfilippo B
Sanfilippo C
Sanfilippo D
N‐sulfoglucosamine sulfohydrolase
α‐N‐acetylglucosaminidase
Heparan‐α‐glucosaminide N‐acetyltransferase
N‐acetylglucosamine‐6‐sulfatase
HS Behavioural problems
Cognitive decline
Hearing loss
MPSIV Morquio A
Morquio B
Galactosamine‐6‐sulfatase
β‐galactosidase
KS/C6‐S
KS
Skeletal abnormalities
MPSVI Maroteaux‐Lamy N‐acetylgalactosamine 4‐sulfatase DS Coarse facial features
Joint contractures
Hepatosplenomegaly
Cardio‐respiratory disease
MPSVII Sly β‐glucuronidase DS/HS/
C4‐,6‐S
Coarse facial features
Short stature
Cognitive decline
Skeletal abnormalities
Cardio‐respiratory disease
MPSIX Natowicz Hyaluronidase Hyaluronan Short stature
Frequent ear infections

MPS, mucopolysaccharidosis; DS, dermatan sulphate; HS, heparan sulphate; KS, keratan sulphate; C6‐S, chondroitin 6‐sulphate; C4‐,6‐S, chondroitin 4‐,6‐sulphate; GAS, glycosaminoglycan.