Ashraf Malhas, PhD,  —

Among all four subtypes of Sanfilippo syndrome (also called mucopolysaccharidosis type III, or MPS III), Sanfilippo type B is the most frequent subtype among the Taiwanese population, according to a retrospective study. These findings are essential for the early diagnosis and timely management of this disorder, as well…

Long-term clinical course examination is important for diagnosing Sanfilippo syndrome type B, because early and accurate diagnosis can provide important information for family planning by those at risk of the disorder. The story with that finding, “Long-term clinical course of a patient with mucopolysaccharidosis type IIIB,” was published in…

Sanfilippo syndrome patients are typically considered at high risk when undergoing anesthesia because of the possibility of airway obstruction, but the use of two specific anesthetics, along with adequate airway positioning, appears to be an effective regimen for these patients, a study reports. The study, “…

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…

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.

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 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…

A new treatment approach effectively carried the enzyme defective in Sanfilippo type A syndrome into the brains of mice in a disease model, researchers report, suggesting the strategy used may be of future importance to patients. The study, “Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan…

A new test that uses dried blood spots has been developed for diagnosing Sanfilippo syndrome type A. This test would prove especially useful for disease screening in newborns, according to a study. The study, “Detection of Mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in Dried Blood Spots (DBS) by Tandem Mass Spectrometry,” was published in …

Using a specific technique to measure the levels of a sugar called glycosaminoglycan in blood and urine can identify all types of mucopolysaccharidosis (MPS) — including Sanfilippo syndrome — and help assess the therapeutic value of treatments, according to researchers. Their study, “Glycosaminoglycans analysis in blood and urine…