(Age and Sex Distribution) Mucopolysaccharidosis Type III is a rare congenital disorder that is present at birth. [dovemed.com]

Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:133-40. Review. Citation on PubMed Malm G, Månsson JE. [medlineplus.gov]

Corneal opacities, such as corneal clouding, are not usually present in individuals with MPS III. [ncbi.nlm.nih.gov]

Somatic features, such as mild organomegaly, little to no corneal clouding, and orthopedic abnormalities, may be present. Neurologic degeneration usually begins in children aged 6 years or older (sometimes even younger). [emedicine.medscape.com]

Symptoms vary greatly in this populations but some common features present in most MPSs are also present in MPS VII (course facial features, cloudy cornea, skeletal abnormalities, intellectual disabilities, etc.). [checkrare.com]

• Hirsutism

  Other symptoms can include coarse hair, excess hair growth (hirsutism), slightly coarse facial features, sleeping problems, mildly enlarged liver and/or spleen, speech delay, respiratory and ear infections, diarrhea, hernias, seizures and a wobbly and [rarediseases.org]

  […] delay Recurrent ear/sinus infections Large head size Diarrhea/chronic loose stool Poor sleep Speech/developmental delays “Autistic” behaviors Significant hyperactivity Respiratory issues at birth Other symptoms can be coarse hair, excess hair growth (hirsutism [healthjade.com]

  Coarse and thick hair are frequently observed, as are synophrys and hirsutism. Skin is often tough and thick, sometimes causing difficulty with venipuncture. Hepatosplenomegaly. [ncbi.nlm.nih.gov]

• Purpura

  […] acyl-CoA oxidase deficiency 264470 ACSL4 Xq23 Mental retardation, X-linked 63 300387 ADA 20q13.12 Severe combined immunodeficiency due to ADA deficiency 102700 Adenosine deaminase deficiency, partial 102700 ADAMTS13 9q34.2 Thrombotic thrombocytopenic purpura [institutobernabeu.com]

• Hyperactivity

  As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, and finally death, usually before adulthood. [sanfilippo.org.au]

  Sanfilippo syndrome can masquerade as ADHD (attention deficit hyperactivity disorder), autism spectrum disorder, and intellectual disability. [healthjade.com]

  Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. [rarediseases.info.nih.gov]

  The disease can take some time to be properly diagnosed since early symptoms (speech delay, insomnia, hyperactivity, recurrent ear/sinus infections, etc.) can mimic more common conditions like attention deficit hyperactivity disorder, autism, and/or intellectual [checkrare.com]

  Almost all affected children exhibit hyperactivity often unresponsive to medication. [ncbi.nlm.nih.gov]

Precise identification of the specific form of Sanfilippo syndrome relies on enzymatic assays (see Workup). [emedicine.medscape.com]

Download a factsheet on Sanfilippo Treatments There is currently no treatment or cure available to children diagnosed with this devastating disease. [sanfilippo.org.au]

There is no curative treatment for MPS I but treatments are available to attenuate the progressive of the disease, including bone marrow transplantation and/or Aldurazyme (laronidase), an FDA-approved enzyme replacement therapy (ERT). [checkrare.com]

[…] care or treatment that concentrates on reducing the severity of disease symptoms. [mpssociety.org]

These can include organ-specific treatments involving corrective surgical procedures. [dovemed.com]

Ongoing advances in gene therapy may influence treatment of MPS III. [ncbi.nlm.nih.gov]

However, the prognosis also depends upon the severity of the signs and symptoms and the subtype of MPS Type III (whether A, B, C, or D). [dovemed.com]

Prognosis Sanfilippo syndrome is a progressive disorder with a very poor prognosis. Severe CNS degeneration occurs, with progression to a vegetative state. [emedicine.medscape.com]

For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu Sanfilippo syndrome prognosis Sanfilippo syndrome has its most devastating effects on the brain. [healthjade.com]

MS/MS, allowing for the simultaneous measurement of several GAGs, provides a sensitive, specific, and reproducible GAG analysis making it potentially useful for the screening, prognosis, and monitoring of any therapeutic effect in MPS patients [9, 10] [ijponline.biomedcentral.com]

(Etiology) Mucopolysaccharidosis Type III is caused by inheriting faulty genes that prevents the body from producing certain enzymes. [dovemed.com]

Epidemiology Frequency International In 1997, Nelson reported an incidence of 1 case per 280,000 live births (0.36 cases per 100,000 live births) for Sanfilippo syndrome in Northern Ireland. [7] In 1999, Poorthuis and others reported an incidence of 4.5 [emedicine.medscape.com]

Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006;Chapter 2. Clarke JTR. [rarediseases.org]

Epidemiology of Sanfilippo syndrome: results of a systematic literature review. Orphanet J Rare Dis. 2018;13:53. [ncbi.nlm.nih.gov]

Pathophysiology The clinical features of Sanfilippo syndrome, including the significant CNS component (brain and spinal cord), result from the progressive lysosomal accumulation of the GAG heparan sulfate. [5] Four enzymes are involved in the different [emedicine.medscape.com]

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid Res Mol Biol. 2001;69:81–114. Article CAS Google Scholar Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, et al. [ijponline.biomedcentral.com]

(Etiology) Mucopolysaccharidosis Type III is caused by inheriting faulty genes that prevents the body from producing certain enzymes. [dovemed.com]

The goal is to prevent and relieve suffering and to improve quality of life for people facing serious, complex illness. This includes respite care, symptom management and bereavement support and may extend over a period of time. [mpssociety.org]

Due to the inability of intravenous ERT to permeate the blood-brain barrier sufficiently to prevent neurologic disease progression, intravenous ERT has not been investigated in MPS III as intensively as it has for other lysosomal storage diseases. [ncbi.nlm.nih.gov]