Average age at diagnosis for Sanfilippo syndrome: A case for newborn screening

Abstract

CO RR EC TE D P RO OF patients we have contacted thus far, 7 patients have had a GAA enzyme assay performed. One of the 7 has been found to have a GAA enzyme level in the affected range for Pompe of less than 3.88 pmol. Sequencing of GAA is pending. His features include limb girdle muscle weakness, bilateral scapular winging, Gower maneuver, and respiratory insufficiency. His muscle weakness began approximately twenty years ago. The remainder of our results will be presented at WORLD. We are optimistic that our data will support that LOPD is a missed diagnosis and testing GAA enzyme activity should be considered for patients presenting with proximal muscle weakness, respiratory insufficiency, and inconclusive muscle biopsy findings. 1 Al-Lozi MI, Amato AA, Barohn R, et al., Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle & nerve. 2009 Jul;40(1):149–60. 2 Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurology. 2013 Jul;70(7):923–7.