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What is Mucopolysaccharidosis III?

What is Mucopolysaccharidosis III?

  • Mucopolysaccharidosis III: Disorder of mucopolysaccharide metabolism in children.
  • 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

Mucopolysaccharidosis III: Introduction

Types of Mucopolysaccharidosis III:

Broader types of Mucopolysaccharidosis III:

Who gets Mucopolysaccharidosis III?

Patient Profile for Mucopolysaccharidosis III: Childhood.

How serious is Mucopolysaccharidosis III?

Prognosis of Mucopolysaccharidosis III: Poor. Death common in late teens.
Complications of Mucopolysaccharidosis III: see complications of Mucopolysaccharidosis III
Prognosis of Mucopolysaccharidosis III: Death usually occurs in the late teens. (Source: excerpt from NINDS Mucopolysaccharidoses Information Page: NINDS)

What causes Mucopolysaccharidosis III?

Causes of Mucopolysaccharidosis III: see causes of Mucopolysaccharidosis III

What are the symptoms of Mucopolysaccharidosis III?

Symptoms of Mucopolysaccharidosis III: see symptoms of Mucopolysaccharidosis III

Complications of Mucopolysaccharidosis III: see complications of Mucopolysaccharidosis III

Can anyone else get Mucopolysaccharidosis III?

More information: see contagiousness of Mucopolysaccharidosis III
Inheritance: see inheritance of Mucopolysaccharidosis III

How is it treated?

Doctors and Medical Specialists for Mucopolysaccharidosis III: Medical Geneticist ; see also doctors and medical specialists for Mucopolysaccharidosis III.
Treatments for Mucopolysaccharidosis III: see treatments for Mucopolysaccharidosis III

Name and Aliases of Mucopolysaccharidosis III

Main name of condition: Mucopolysaccharidosis III

Other names or spellings for Mucopolysaccharidosis III:

MPS III, Sanfilippo syndrome, Mucopolysaccharidosis type 3 (subtypes A [B - C - D)], Heparan sulfate sulfatase deficiency (Type 3 A), N-acetylglucosaminidase deficiency (Type 3 B), Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type 3 C), N-acetylglucosamine-6-sulfate sulfatase deficiency (Type 3 D)

Sanfilippo disease Source - Diseases Database

Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC), Heparan sulfate sulfatase deficiency (Type IIIA), Mucopolysaccharidosis type III (subtypes A - B - C - D), N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID), N-acetylglucosaminidase deficiency (Type IIIB)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Mucopolysaccharidosis III: Related Conditions

Research the causes of these diseases that are similar to, or related to, Mucopolysaccharidosis III:

 

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