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A child with severe skeletal abnormalities has short trunk, odontoid hypoplasia, and corneal clouding but normal intelligence.
AR
- Type A: GALNS (N-acetylgalactosamine-6-sulfatase)
- Type B: GLB1 (beta-galactosidase)
- Severe skeletal involvement
- Normal intelligence
- Corneal clouding
- Odontoid hypoplasia (cervical instability)
- Keratan sulfate elevated
- Urine glycosaminoglycans: elevated keratan sulfate (urinary GAG can be falsely normal, so a normal screen does not exclude the diagnosis)
- Deficient enzyme activity: type A (GALNS, N-acetylgalactosamine-6-sulfatase), type B (GLB1, beta-galactosidase)
- Molecular confirmation of GALNS or GLB1; skeletal survey shows dysostosis multiplex with platyspondyly and odontoid hypoplasia
- Cervical spine imaging and surveillance for atlantoaxial instability (odontoid hypoplasia); cervical fusion to prevent cord compression
- Enzyme replacement therapy with elosulfase alfa for type A
- Multidisciplinary care: orthopedics, pulmonology, cardiology (valve disease), audiology, ophthalmology; avoid contact sports
"Mor-QU-io" = MPS IV: QUad = 4, so MorQUio = MPS IV.
"MorKio has Keratan sulfate": the "K" sound in Morquio links to keratan sulfate (the accumulated substrate).
"Mind is intact in Morquio": no intellectual disability (unlike other MPS types). "Morquio is smart enough to play in an orquestra."
MPS VI is "Stuck" (contractures), MPS IV is Flexible (ligamentous laxity): helps distinguish Morquio (IV) from Maroteaux-Lamy (VI).