Condition

Sanfilippo syndrome

Endocrine, Nutritional and Metabolic Diseases

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
Body System
Nervous System 1
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Prevalence Band
Rare (Under 1 in 2000) 4
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
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2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:581 Sanfilippo syndrome
Orphadata (Orphanet)ICD-10 cross-reference
Quote, 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)Definition
Quote, Definition
A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides.
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4. Orphadata (Orphanet): Orphadata epidemiology for ORPHA:581 Mucopolysaccharidosis type 3
Orphadata (Orphanet)Prevalence, Worldwide
Quote, Prevalence, Worldwide
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Worldwide"
View the Source
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