Sanfilippo syndrome, also called mucopolysaccharidosis type III or MPS III, is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It arises from a problem in how the body breaks down large sugar molecules known as glycosaminoglycans, which then build up and damage the central nervous system and other organ systems. Children usually seem well at birth. As they grow they may have trouble learning new things and can lose skills they had already gained, and later seizures and movement disorders may appear. Most affected children live into adolescence or early adulthood.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Sanfilippo syndrome (Wikipedia)
Lead
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord.
Lead, first sentence
is a rare lifelong genetic disease that mainly affects the brain and spinal cord
Lead, first sentence [body-system]
mainly affects the brain and spinal cord
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:581 Sanfilippo syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "E76.2", "Source": "ICD-10"
View the Source 3. National Cancer Institute (NCI Thesaurus): Sanfilippo syndrome - NCI Thesaurus concept C61262
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides.
View the Source 4. Orphadata (Orphanet): Orphadata epidemiology for ORPHA:581 Mucopolysaccharidosis type 3
Orphadata (Orphanet)Prevalence, WorldwideQuote, Prevalence, Worldwide
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Worldwide"
View the Source Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.