MPS IV A. Morquio A disease.
Incidence
1:40,000 both forms. AR inheritance. It is a severe form. It is a N-acetylgalactosamine-6-sulfatase deficiency.
Clinical Characteristics
Severe dwarfism, normal intelligence. Marked skeletal deformities with marked shortening of the trunk, curved spine, typical barrel chest with pigeon breast and short neck. Prominent maxilla. Cardiac problems due to abnormal chest. Late corneal opacity. Marked spondylepiphyseal dysplasia. Type A is more severe and have hypoplasia of odontoid process regularly present and bulbospinal compression may occur. May have meningeal and neuronal affectation.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB(F), Urine metabolic screen with Berry test. MPS (KS) in urine.