Alessandro De Falco, Marianthi Karali, Chiara Criscuolo, Francesco Testa, Maria Rosaria Barillari, Margherita Scarpato, Valeria Gaudieri, Alberto Cuocolo, Anna Russo, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi, Nicola Brunetti-Pierri
Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SGSH gene encoding N-sulfoglucosamine sulfohydrolase, an enzyme involved in the degradation of heparan sulfate. MPS IIIA is typically characterized by neurocognitive decline and hepatosplenomegaly with childhood onset. Here, we report on a 53-year-old male subject initially diagnosed with Usher syndrome for the concurrence of retinitis pigmentosa and sensorineural hearing loss...
December 27, 2023: American Journal of Medical Genetics. Part A