I received a package in the mail last week. It was a test that I will be able to take and send to a lab to find out if I am a carrier for Sanfilippo syndrome. My sister, Abby, has this rare and terminal disease for…

Sanfilippo syndrome is such a rare disease that most physicians are unfamiliar with it. If your child has Sanfilippo and experiences an emergency, medical personnel may not fully understand what is happening or any additional risks that certain procedures or medications might pose for your child. Therefore, medical alert cards…

Hearing loss is the most common auditory complaint among young patients with different forms of mucopolysaccharidosis (MPS), including Sanfilippo syndrome, a small study suggests. According to investigators, these findings highlight the importance of routine tests to monitor hearing quality in these patients, and assess when hearing rehabilitation should be…

Researchers have developed an efficient way of screening newborns for eight lysosomal storage diseases — including five mucopolysaccharidosis (MPS) disorders — at the same time, a large Taiwanese study shows. The work suggests that this method could be used in newborn screening around the world to detect these disorders and initiate appropriate…

Heart problems are less common, and milder in severity, in people with Sanfilippo syndrome compared with other forms of mucopolysaccharidosis, a Taiwanese study has found. The cardiac problems identified by the researchers included valvular heart disease due to aortic valve abnormalities and valve narrowing, which worsened with…

Hernias, flat feet, joint rigidity, and keen misalignment are among the clinical symptoms at diagnosis in patients with mucopolysaccharoidosis (MPS) including Sanfilippo syndrome, according to Mexican study. The research, “Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico,” was published in…

Combined behavioral and pharmacological therapy seems to be the best course of action in treating behavioral and sleep problems in children with mucopolysaccharidosis (MPS) disorders, a review study has found. MPS comprises a group of lysosomal storage disorders caused by deficiencies and/or malfunction of specific enzymes responsible for breaking…

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 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 …

Researchers have developed and characterized the first fruit fly model for Sanfilippo syndrome to help advance knowledge about the cellular and molecular mechanisms that drive symptoms of the condition. The study “Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA” was published in the journal…