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Article

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.

Journal of applied genetics - 1 Sept 2022

Anikiej-Wiczenbach Paulina, Mański Arkadiusz, Milska-Musa Katarzyna, Limanówka Monika, Wierzba Jolanta, Jamsheer Aleksander, Cyske Zuzanna, Gaffke Lidia, Pierzynowska Karolina, Węgrzyn Grzegorz

Abstract excerpt

Mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo syndrome type B) is an inherited metabolic disease caused by mutations in the NAGLU gene, encoding α-N-acetylglucosaminidase. Accumulation of undegraded heparan sulfate (one of glycosaminoglycans) arises from deficiency in this enzyme and leads to severe symptoms, especially related to dysfunctions of the central nervous system. Here, we describe a case of...

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PMID: 35525889
DOI: 10.1007/s13353-022-00702-2

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