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5th February 2024
Clinical summary
The table below shows details of common mucopolysaccharidoses that are favourites in the MRCP Part 1 exam:
| Group | Syndrome | Deficiency | Accumulation | Features |
|---|---|---|---|---|
| MPS 1-H;S;H/S | Hurler syndrome | Alpha-L-iduronidase | Dermatan sulfates
Heparan sulfates |
Most severe form
Developmental delays Recurrent urinary and respiratory tract infections, skeletal deformities, Cloudy cornea, pigmentary retinopathy |
| cheie syndrome | Alpha-L-iduronidase | Dermatan sulfate | Mildest form
Normal IQ, height and life expectancy Stiff joints, aortic regurgitation, cloudy cornea |
|
| Hurler-Scheie syndrome | Alpha-L-iduronidase | Dermatan sulfate | Severity in-between Hurler and Scheie syndrome
Coarse facial features, joint stiffness, cloudy corneas, hepatosplenomegaly, skeletal and cardiac abnormalities |
|
| MPS II | Hunter syndrome | Iduronate sulfatase | Dermatan sulfate
Heparan sulfate |
Progressive growth delays, short stature, stiff joints
Macrocephaly, hepatosplenomegaly IIA (more severe form)- reduced IQ IIB (mild form)- normal IQ Cornea is clear |
| MPS III | Sanfilippo syndrome | Heparan N-sulfatase | Heparan sulfate | Four subtypes (A, B, C, D)
Hyperactivity, sleep disorders, varying intellectual disability, seizures, unsteady gait Pigmentary retinopathy and optic atrophy |
| MPS IV | Morquio syndrome | N-acetyl-galactosamine-6-sulfatase and beta galactosidase | Keratan sulfate
Chondroitin sulfate |
Normal IQ
Skeletal dysplasia Prominent lower face, abnormally short neck, genu valgum, flat feet, kyphoscoliosis Cloudy cornea |
| MPS VI | Maroteaux-Lamy syndrome | N-acetylgalactosamine-4-sulfatase | Dermatan sulfate | Normal IQ
Coarse facial features, umbilical hernia, joint contractures, hepatosplenomegaly Cloudy cornea |
| MPS VII | Sly syndrome | Beta-glucuronidase | Dermatan sulfate
Heparan sulfate Chondroitin sulfate |
Normal IQ
Skeletal/facial dysmorphism Cloudy cornea Hydrocephalus, short stature, heart diseases Hydrops fetalis |
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