Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been
the primary method for detecting mucopolysaccharidoses in children. This method may not be
sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency.
Investigators propose to identify patients retrospectively and prospectively who carry a
diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal
femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients,
investigators will perform enzyme testing on a blood sample which will identify MPS VI or
IVA.

Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with
medical management. Therefore, it is important to determine effective diagnostic methods.
Investigators believe that bilateral hip involvement should alert the clinician to the
possibility of MPS VI and further examination. The purpose of this study is to test the
hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients
with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS
studies.