Gourt > Health > Conditions and Diseases > Genetic Disorders > Sanfilippo Syndrome
Sanfillipo syndrome is a lysosomal storage disorder resulting from a deficiency in the lysosomal enzyme heparan-N-sulfatase. The enzyme performs a crucial step in the breakdown of the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. Although undegraded heparan sulfate is the primary stored substrate, glycolipids such as gangliosides are also stored despite no genetic defect in the enzymes associated with their breakdown.
MPS-III A has an incidence of approximately 1 in 115 000 live births. Higher rates are found in certain populations such as the Ashkenazi Jews. It is a rare disease.
Natural History and Diagnosis
It should be noted that MPS-III A, B, C and D are considered to be clinically indistinguishable, although mutations in different genes are responsible for each disease. The following discussion is therefore applicable to all four conditions. More on [ Sanfilippo syndrome ]
Connective Tissue :: Musculoskeletal Disorders
Nutrition and Metabolism Disorders
Rare Disorders :: Conditions and Diseases
What is Sanfilippo Syndrome? @ http://aclnk.com/ar2209075
hippydo (Cara) Fri, 09 Oct 2009 16:21:11 -0000
What is Sanfilippo Syndrome? @ http://aclnk.com/ar2209075
Ben's Dream - Information about a foundation dedicated to increasing awareness of Sanfilippo Syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter.
Bennett Children's Foundation - Founded by parents of three young children who suffer from Sanfilippo Syndrome, a degenerative genetic disorder that is usually fatal before the teens. Raising awareness of the condition and enlisting financial support.
Meta Description: [ All 3 of the Bennett children have recently been diagnosed with Sanfilippo Syndrome, a rare genetic disorder that often leads to death before the teens. ]
Children's Medical Research Foundation - Funds medical research to find a cure for Sanfilippo Syndrome and other neuro-genetic disorders. News and links to summaries of research that has been supported by the foundation.
Julia's Hope--The Sanfilippo Syndrome Medical Research Foundation, Inc. - A non-profit organization incorporated under the laws of the State of Nebraska to promote research toward a cure for Sanfilippo Syndrome and related disorders in children. Events, grants, and Julia's story.
Meta Description: [ juliashope.org ]
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MPS III: Sanfilippo Syndrome - Information, including the causes, different forms, the inheritance and how the disorder progresses.
Special Child: Disorder Zone Archives - Sanfilippo Syndrome - Describes the disorder for the benefit of parents, lists characteristics of children with the disorder, and tells what to expect.
The Sanfilippo Children's Research Foundation - Canadian based charitable group founded by the parents of Elisa Linton.
