Sanfilippo syndromeE76.2

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Sanfilippo disease; Sanfilippo syndrome

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HistoryThis section has been translated automatically.

Sanfilippo, 1963

DefinitionThis section has been translated automatically.

Autosomal recessive inherited mucopolysaccharidosis with different subtypes.

Occurrence/EpidemiologyThis section has been translated automatically.

  • Incidence (all mucopolysaccharidoses): 3-4:100,000 inhabitants/year.
  • Incidence (Sanfillipo's disease): 1-5:100,000 inhabitants/year.

EtiopathogenesisThis section has been translated automatically.

Autosomal-recessive inherited defects of the genes for the enzymes:

heparan sulfatase (MPS type IIIA; gene locus 17q25.3)

N-acetylglucosaminidase (MPS type IIIB; gene locus: 17q21)

Acetyl-CoA-glucosamine acetyltransferase (MPS type IIIC; gene locus chromosome 14)

N-acetylglucosamine-6-sulfatase (MPS type IIID; gene locus 12q14).

All 4 enzyme defects cause the excessive lysosomal deposition of heparan sulfate in the connective tissue and especially in the CNS.

ManifestationThis section has been translated automatically.

Occurs mainly in the 2nd to 4th year of life.

Clinical featuresThis section has been translated automatically.

  • Integument: Generalized, yellowish-whitish, hard, caked plates, usually from birth. Followed by atrophy and sclerosis of the skin and skin appendages. Often hyperhidrosis or hypertrichosis.
  • Extracutaneous manifestations: bone dysplasia, hepatomegaly, intelligence defects, possibly growth disorders, joint contractures and gargoylism.

LaboratoryThis section has been translated automatically.

Mucopolysacchariduria.

LiteratureThis section has been translated automatically.

  1. Beesley CE et al (2003) Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. J Med Genet 40: 192-194
  2. Cleary MA et al (1993) Management of mucopolysaccharidosis type III Arch Dis Child 69: 403-406
  3. Fraser J et al (2002) Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet 62: 418-421
  4. Sanfilippo, S J, Podosin R, Langer LO Jr, Good, RA (1963) Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J Pediat 63: 837-838

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer