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Dictionary » Sanfilippo disease

Sanfilippo disease

Introduction: Sanfilippo disease

Description of Sanfilippo disease

Sanfilippo disease (medical condition): Disorder of mucopolysaccharide metabolism in children....more »

See also:

Mucopolysaccharidosis III:
  »Introduction: Mucopolysaccharidosis III
  »Symptoms of Mucopolysaccharidosis III
  »Treatments for Mucopolysaccharidosis III

Sanfilippo disease: 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 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 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 ( deficiency.
Source: Diseases Database

Sanfilippo disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Sanfilippo disease:

Sanfilippo disease: Rare Disease


Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Sanfilippo disease as a "rare disease".

Source - Orphanet

Sanfilippo disease as a Disease

Sanfilippo disease: Another name for Mucopolysaccharidosis III (or close medical condition association).
  »Introduction: Mucopolysaccharidosis III
  »Symptoms of Mucopolysaccharidosis III
  »Treatments for Mucopolysaccharidosis III

Sanfilippo disease: Related Diseases

Sanfilippo disease: Sanfilippo disease is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Sanfilippo disease (Mucopolysaccharidosis III)

Some of the symptoms of Sanfilippo disease incude:

Treatments for Sanfilippo disease (Mucopolysaccharidosis III)

Treatments for Sanfilippo disease (Mucopolysaccharidosis III) include:

Treatment of Sanfilippo disease: For more treatment information about Sanfilippo disease, see treatment of Mucopolysaccharidosis III (Sanfilippo disease)

Sanfilippo disease: Article Excerpts about Mucopolysaccharidosis III

Individuals with MPS III, or Sanfilippo syndrome, experience progressive dementia and mental... (Source: excerpt from NINDS Mucopolysaccharidoses Information Page: NINDS)

Sanfilippo disease: Related Disease Topics

These medical disease topics may be related to Sanfilippo disease:

Terms associated with Sanfilippo disease:

Terms Similar to Sanfilippo disease:

Source: Diseases Database

External links related to: Sanfilippo disease

Source: Diseases Database

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