TABLE 11-3
Classification of the Mucopolysaccharidoses (MPS)*
Number
Eponym
Clinical Manifestations
Enzyme Deficiency
Glycosaminoglycan
Affected
MPS IH
Hurler
Corneal clouding, dysostosis multiplex,
organomegaly, heart disease, mental
retardation, death in childhood
a-L-Iduronidase
Dermatan sulfate, heparan sulfate
MPS IS
Scheie
Corneal clouding, stiff joints, normal
intelligence and life span
ce-L-Iduronidase
Dermatan sulfate, heparan sulfate
MPS I H/S
Hurler/Scheie
Phenotype intermediate between IH and I S
a-L-Iduronidase
Dermatan sulfate, heparan sulfate
MPS II
(severe)
Hunter (severe)
Dysostosis multiplex, organomegaly, no corneal
clouding, mental retardation, death before
15 years
Iduronate sulfatase
Dermatan sulfate, heparan sulfate
MPS II
(mild)
Hunter (mild)
Normal intelligence, short stature, survival
to
2 0
s to 60s
Iduronate sulfatase
Dermatan sulfate, heparan sulfate
MPS III A
Sanfilippo A
Profound mental deterioration,
hyperactivity, relatively mild somatic
manifestations
Heparan V-sulfatase
Heparan sulfate
MPS III B
Sanfilippo B
Phenotype similar to III A
a-A-Acetylglucosaminidase
Heparan sulfate
MPS III C
Sanfilippo C
Phenotype similar to III A
Acetyl CoA:a-glucosaminide
acetyltransferase
Heparan sulfate
MPS III D
Sanfilippo D
Phenotype similar to III A
/V-Acetylglucosamine
6
-sulfatase
Heparan sulfate
MPS IV A
Morquio A
Distinctive skeletal abnormalities, corneal
clouding, odontoid hypoplasia; milder forms
known to exist
Galactose
6
-sulfatase
Keratan sulfate, chondroitin
6
-sulfate
MPS IV B
Morquio B
Spectrum of severity as in IV A
/3-Galactosidase
Keratan sulfate
MPS V
No longer used
—
—
—
MPS VI
Maroteaux-Lamy
Dysostosis multiplex, corneal clouding,
normal intelligence; survival to teens in
severe form; milder forms known to exist
N-
Acetylgalactosamine
4-sulfatase (arylsulfatase B)
Dermatan sulfate
MPS VII
Sly
Dysostosis multiplex, hepatosplenomegaly;
wide spectrum of severity, including
hydrops fetalis and neonatal form
/3-Glucuronidase
Dermatan sulfate, heparan sulfate,
chondroitin 4-,
6
-sulfates
MPS VIII
No longer used
—
—
—
*Reproduced with permission from E. F. Neufeld and J. Muenzer: In Metabolic Basis of Inherited Disease 7th ed., C. R. Scriver, A. L. Beaudet, W. S. Sly and D. Valle, Eds. (McGraw-Hill 1995)
page 2466.
