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An atypical case of Sanfilippo syndrome, in which symptoms were evident but urine tests proved negative, highlights the heterogeneous nature of this condition and the likelihood of an initial misdiagnosis. The study, “Delayed speech hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?,” was published in the Journal of…

A recent case report identified two siblings with Sanfilippo syndrome type C (MPSIIIC) who were also diagnosed with Klüver-Bucy syndrome, indicating a previously unknown association between the rare neurological disorder and this Sanfilippo type. The report, “Klüver-Bucy syndrome associated with a recessive variant…

An investigative gene therapy to treat patients with Sanfilippo syndrome type C was developed at the University of Manchester in England, and Phoenix Nest, a biotech based in the U.S., has signed a licensing agreement to take the therapy to the clinical trial stage. Sanfilippo syndrome type…

A rare and unexpected case of Sanfilippo type IIIA was reported in a 13-month-old child following the observance of high levels of the enzyme creatinine kinase in the child’s blood. The case report, “Mucopolysaccharidosis IIIA presenting with hyperckemia in a child,” was published in the journal Acta Neurologica Belgica.

Sanfilippo syndrome type A leads to the accumulation of other large sugar molecules besides the characteristic heparan sulfate in several organs, according to a mouse study from Italy. The study, “Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase…

Treating a mouse model of Sanfilippo with a small molecule, called trehalose, may be a viable therapeutic approach for people with this syndrome, researchers suggest. Their study, “Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency” was published in the journal Autophagy. Autophagy…

A common sugar often used as a food additive was seen to ease inflammation in the brain and retina, and extend the life of Sanfilippo disease IIIB (mucopolysaccharidosis IIIB) mice in a preclinical study. The study, “Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal…

New formulations based on sugar molecules may improve the properties of candidate compounds for substrate reduction therapy to treat Sanfilippo syndrome, researchers have found. The study, “Cyclodextrin encapsulation of daidzein and genistein by grinding: implication on the glycosaminoglycan accumulation in mucopolysaccharidosis type II…

A retrospective analysis on magnetic resonance images from patients with mucopolysaccharidoses (MPS), including Sanfilippo syndrome, revealed jaw bone defects specific to certain disease subtypes. Researchers also found that some of these craniofacial abnormalities, which are those relating to the bones of the skull and face, were not corrected even…

Researchers have discovered a new mutation in the NAGLU gene that is associated with Sanfilippo syndrome type B. They described the mutation in a case report titled, “A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B),” published…