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Mucopolysaccharidosis III

Mucopolysaccharidosis III: Introduction

Mucopolysaccharidosis III: Individuals with MPS III, or Sanfilippo syndrome, experience progressive dementia and mental deterioration in childhood. Death ... more about Mucopolysaccharidosis III.

Mucopolysaccharidosis III: Disorder of mucopolysaccharide metabolism in children. More detailed information about the symptoms, causes, and treatments of Mucopolysaccharidosis III is available below.

Symptoms of Mucopolysaccharidosis III

Treatments for Mucopolysaccharidosis III

Mucopolysaccharidosis III: Related Patient Stories

Mucopolysaccharidosis III: Deaths

Read more about Deaths and Mucopolysaccharidosis III.

Mucopolysaccharidosis III: Complications

Read more about complications of Mucopolysaccharidosis III.

Causes of Mucopolysaccharidosis III

Read more about causes of Mucopolysaccharidosis III.

Disease Topics Related To Mucopolysaccharidosis III

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Prognosis for Mucopolysaccharidosis III

Prognosis for Mucopolysaccharidosis III: Poor. Death common in late teens.

Statistics for Mucopolysaccharidosis III

Mucopolysaccharidosis III: Broader Related Topics

Mucopolysaccharidosis III Message Boards

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Article Excerpts about Mucopolysaccharidosis III

Individuals with MPS III, or Sanfilippo syndrome, experience progressive dementia and mental deterioration in childhood. Death usually occurs in the late teens. (Source: excerpt from NINDS Mucopolysaccharidoses Information Page: NINDS)

Definitions of Mucopolysaccharidosis III:

An inborn error of metabolism with a deficiency of enzymes involved in heparan sulfate (HS) degradation. The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age. Behavioral disorders, mental deterioration, and a loss of motor skills are the principal features. Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: A, B, C and D. The phenotype is similar in all four types and consists mainly of some facial coarsening with dull appearance, slightly sunken nasal bridge, and abundant scalp hair. Early development is usually normal, followed between the ages of 2 to 6 years by mainly behavioral disorders with progressive loss of mental and motor skills with spastic diplegia, the patient eventually becoming bedridden. Death usually takes place from 10 to 20 years of age. Type A has the most severe course with the earliest onset and mortality. Type A Synonyms: Sanfilippo syndrome A heparan sulfate sulfatase deficiency mucopolysaccharidosis IIIA (MPS IIIA) Caused by heparan sulfatase (EC 3.10.1.1) deficiency. Type B Synonyms: Sanfilippo syndrome B mucopolysaccharidosis IIIB (MPS IIIB) N-acetyl-alpha-D-glucosaminidase (NAG) deficiency N-acetyl-alpha-D-glucosaminidase (NAG) polymorphism] is caused by Caused by N-acetyl-alpha-D-glucosaminidase (EC 3.2.1.50) deficiency. Type C Synonyms: Sanfilippo syndrome C acetyl-CoA:alpha-glucosamide N-acetyltransferase deficiency mucopolysaccharidosis IIIC (MPS IIIC) Caused by acetyl-CoA:alpha-glucosamide N-acetyltransferase (EC 2.3.13) deficiency. Type D Synonyms: Sanfilippo syndrome D mucopolysaccharidosis IIID (MPS IIID) N-acetylglucosamine-6-sulfate sulfatase deficiency) C Caused by N-acetylglucosamine-6-sulfate sulfatase (3.1.6.14) deficiency. - (Source - Diseases Database)

Mucopolysaccharidosis III is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Mucopolysaccharidosis III, or a subtype of Mucopolysaccharidosis III, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Mucopolysaccharidosis III as a "rare disease".
Source - Orphanet

 

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