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Concept: Sanfilippo syndrome


Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused by a deficiency of heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). Here, we report a case of MPS IIIC that was confirmed by molecular genetic analysis. The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development. Urinary excretion of glycosaminoglycan (GAG) was markedly elevated (984.4 mg GAG/g creatinine) compared with the age-specific reference range (<175 mg GAG/g creatinine), and a strong band of heparan sulfate was recognized on performing thin layer chromatography. HGSNAT enzyme activity in leukocytes was 0.7 nmol/17 hr/mg protein, which was significantly lower than the reference range (8.6-32 nmol/17 hr/mg protein). PCR and direct sequencing of the HGSNAT gene showed 2 mutations: c.234+1G>A (IVS2+1G>A) and c.1150C>T (p.Arg384(*)). To the best of our knowledge, this is the first case of MPS IIIC to be confirmed by clinical, biochemical, and molecular genetic findings in Korea.

Concepts: DNA, Molecular biology, Metabolism, Enzyme, Lysosomal storage disease, Chromatography, Mucopolysaccharidosis, Sanfilippo syndrome


Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom Fabry disease was incidentally diagnosed in two females. In both families, the risk for other lysosomal disorders was known about other members affected respectively by fucosidosis or Mucopolysaccharidosis I (MPSI) Hurler/Scheie. Some subjects were simultaneously heterozygous for Fabry and the other lysosomal deficiency. Our study demonstrates that the risk for more than one lysosomal storage disorder can occur in a family pedigree. The diagnosis of Fabry in female probands represents a diagnostic challenge, as symptoms and signs can be variably present due to the random X-chromosome inactivation.

Concepts: Lysosomal storage disease, Fabry disease, Mucopolysaccharidosis, Lysosomal storage diseases, Hunter syndrome, Sanfilippo syndrome, Mucolipidosis, X-inactivation


Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS III types have been recognized, characterized by a large phenotypic heterogeneity. This is the first Spanish study describing the natural history of Sanfilippo patients (MPSIIIA, MPSIIIB and MPSIIIC), representing an essential step for understanding patient prognosis and for the establishment and application of future therapies.

Concepts: Lysosomal storage disease, Natural environment, Lysosome, Nature, Mucopolysaccharidosis, Sanfilippo syndrome, Natural science, Natural history


Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit hyperactivity disorder, and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. Conclusion: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III. ©2013 The Author(s)/Acta Paediatrica ©2013 Foundation Acta Paediatrica.

Concepts: Autism, Attention-deficit hyperactivity disorder, Hyperactivity, Asperger syndrome, Autism spectrum, Stimulant, Mucopolysaccharidosis, Sanfilippo syndrome


Sanfilippo syndrome type III B (MPS III B) is an inherited disorder characterized by a deficiency of ?-N-acetylglucosaminidase (Naglu) enzyme leading to accumulation of heparan sulfate in lysosomes and severe neurological deficits. We have previously shown that a single administration of human umbilical cord mononuclear cells (hUCB MNC) into Nagluknockout mice decreased behavioral abnormalities and tissue pathology. In this study, we tested whether repeated doses of hUCB MNCs would be more beneficial than a single dose of cells. Naglumice at 3 months of age were randomly assigned to either a Media only group, or one of three hUCB MNC treatment groups - single low dose (3x10(6) cells), single high dose (1.8x10(7) cells) or multiple doses (3x10(6) cells monthly for 6 months) delivered intravenously (i.v.); cyclosporine was injected i.p. to immune suppress the mice for the duration of the study. An additional control group of wild type mice was also used. We measured anxiety in an open field test and cognition inactive avoidance test prior to treatment and then at monthly intervals for 6 months. hUCB MNCs restored normal anxiety-like behavior in these mice (p < 0.001). The repeated cell administrations also restored hippocampal cytoarchitecture, protected the dendritic tree, decreased GM3 ganglioside accumulation and decreased microglial activation, particularly in hippocampus and cortex. These data suggest that the neuroprotective effect of hUCB MNCs can be enhanced by repeated cell administrations.

Concepts: Psychology, Gene, Blood, Umbilical cord, Cord blood, Wharton's jelly, Sanfilippo syndrome, Cord blood bank


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 leading to premature death. Eighty-four, 24 and 5 death certificates of patients with Sanfilippo syndrome types A, B and C, respectively, were obtained from the Society of Mucopolysaccharide Diseases (UK) to better understand the natural course of these conditions, covering the years 1977-2007.

Concepts: Death, Lysosomal storage disease, Heparan sulfate, Heparin, Mucopolysaccharidosis, Lysosomal storage diseases, Sanfilippo syndrome, Type theory


To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.

Concepts: Lysosomal storage disease, Syndromes, Nature, Category theory, Mucopolysaccharidosis, Sanfilippo syndrome, Natural science, Natural history


Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with CYP26B1 was reported in three families, in which the patients were all homozygous variations. However, the co-occurrence of two rare diseases in a person is very rare. Here, we reported one patient with two novel pathogenic missense variations in NAGLU and CYP26B1.

Concepts: Lysosomal storage disease, Zygosity, Mucopolysaccharidosis, Sanfilippo syndrome


Sanfilippo syndrome (mucopolysaccharidosis [MPS] III subtypes A, B, C, and D) is a rare autosomal recessive inherited metabolic disorder that causes progressive neurocognitive degeneration. This systematic literature review was undertaken to compile and assess published epidemiological data, including various frequency measures and geographical variation on Sanfilippo syndrome.

Concepts: Epidemiology, Energy, Lysosomal storage disease, Syndromes, Mucopolysaccharidosis, Sanfilippo syndrome


Overall Goal: This study was designed to evaluate the impact of pentosan polysulfate (PPS) treatment on mice with mucopolysaccharidosis (MPS) type IIIA (Sanfilippo A syndrome; OMIM 252900).

Concepts: Lysosomal storage disease, Mucopolysaccharidosis, Sanfilippo syndrome, Pentosan polysulfate