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Table 1 Mucopolysaccharidoses (MPS) classification

From: Anesthesiological risks in mucopolysaccharidoses

Type

Common name

Major symptoms

Deficient enzyme

GAGs

Enzyme replacement therapy

MPS IH

Hurler syndrome

Progressive involvement of the heart (cardiomyopathy cardiac valve and coronary infiltration), skeleton, and airways. Frequent obstructive sleep apnea. Possible cervical spine involvement. Progressive intellectual disability

α-l-iduronidase

Heparan sulfate

Dermatan sulfate

Aldurazyme

MPS IHS

Hurler-Scheie syndrome

Intermediate severity, onset in early childhood with mild to cognitive impairment

MPS IS

Scheie syndrome

Least severe, onset in childhood with no cognitive impairment

MPS II

Hunter syndrome

Wide range (mild to severe forms). In severe forms progression similar to MPS IH. Cardiac valve and coronary infiltration cardiomyopathy. Frequent obstructive sleep apnea. Intellectual disability may be absent in mild form

Iduronate sulfate sulfatase

Heparan sulfate

Dermatan sulfate

Elaprase

MPS IIIA

Sanfilippo syndrome A

Developmental delay, severe hyperactivity, behavioral problems. Somatic manifestations are generally less severe than other MPS

Heparan-S-sulfaminidase

Heparan sulfate

Not available

MPS IIIB

Sanfilippo syndrome B

Symptoms and disease progression are less severe than IIIA

N-acetyl-α-d-glucosaminidase

MPS IIIC

Sanfilippo syndrome C

Acetyl-Co-A glucosaminidase

MPS IIID

Sanfilippo syndrome D

N-Acetylglucosidase

N-acyltransferase

MPS IVA

Morquio syndrome A

Severe skeletal dysplasia usually leading to pulmonary compromise. Hypoplasia of the odontoid process causing atlanto-axial instability and cervical subluxation. Aortic valve involvement common. Usually intellectually normal

Galactosamine-6-sulfate sulfatase

Keratan sulfate

Chondroitin 6-sulfate

Elosulfase alfa

MPS IVB

Morquio syndrome B

Milder than MPS IVA

MPS VI

Maroteaux–Lamy syndrome

Severe skeletal dysplasia, spinal cord compression from GAGs. Progressive cardiac valve degeneration with stenosis and/or incompetence

N-acetyl-galactosamine α-4-sulfate sulfatase

Dermatan sulfate

Galsulfase, Naglazyme

MPS VII

Sly syndrome

Highly variable developmental delay and progressive intellectual disability may be present

β-glucuronidase

Dermatan sulfate, heparan sulfate, chondroitin sulfate

recombinant human β-glucuronidase

MPS IX

 

Periarticular soft tissue masses, mild short stature, and acetabular erosions without classical MPS features It is very rare

Hyaluronidase 1

Hyaluronan

 
  1. GAG glycosaminoglycan