123. Construction & characterization of mutation-specific mouse models for Types A and B Niemann–Pick disease

Abstract

due to deficiency of N-acetyl-galactosamine-6-sulphatase (MPS IVA) or beta-galactosidase (MPS IVB). The aim of this study was to describe the Argentinean experience in first assessment and biochemical diagnosis of the disease. Results: Of a total of 36 patients, MPS IVA was diagnosed in 33 (92%) and MPS IV B in 3 (8%) through enzymatic assay. All but one (3%) had abnormal urinary excretion of keratan sulphate in urine. The referring physician speciality was: paediatrician 36%, geneticist 36%, pediatric neurologist 21% and orthopedistt 7%. At the time of diagnosis, disostosis was present in all the patients 100%, liver and spleen enlargement in 16% and corneal clouding in 13%. Median age at the diagnosis was 3.5 years old. Conclusions: At our knowledge, this is one of the largest populations of MPS IV 4s patients. Detailed reports on this pathology would probably allow its earlier recognition and a better therapeutic approach.