Sanfilippo syndrome type D in two adolescent sisters.

Mortality in patients with Sanfilippo syndrome

BACKGROUND Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant accumulation of this substrate in bodily tissues causes various malfunctions of organs, ultimately leadin...

Complete Androgen Insensitivity Syndrome in Three Sisters

Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure

In the past 5 years two clinical trials for Sanfilippo type A have been conducted, namely Shire’s enzyme replacement therapy and Lysogene’s gene therapy. Nationwide Children’s Hospital is aiming to start gene-therapy clinical trials for types A & B in 2014. For other Sanfilippo types C and D the research is at preclinical stages including genetherapy (Type C) and developing and characterizing a...

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.

Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. It is caused by a deficiency of N-acetylglucosamine-6-sulphatase, which is one of the enzymes involved in the catabolism of heparan sulphate. We present the clinical, biochemical, and, for the first time, the molecular diagnosis of a patient with Sanfilippo D disease. The patient was found to be hom...

Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

INTRODUCTION Sanfilippo syndrome type A (mucopolysaccharidosis IIIA - MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by a deficiency in sulfamidase. CASE PRESENTATION Two daughters (13 and 11 years old) of a consanguineous Palestinian family from the Israeli Arab community were investigated clinically and genetically for the presence of progressive neurodegenerative dis...