Sly diseaseE76.0

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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HistoryThis section has been translated automatically.

Sly, 1973

DefinitionThis section has been translated automatically.

Hereditary mucopolysaccharidosis caused by a defect of the enzyme β-glucuronidase.

Occurrence/EpidemiologyThis section has been translated automatically.

Incidence (Sly disease): 1:250,000 inhabitants/year.

EtiopathogenesisThis section has been translated automatically.

Autosomal dominant inherited defect of the β-glucuronidase gene mapped on gene locus 7q21.11 causing the faulty expression of the enzyme β-glucuronidase. The consequence of the enzyme defect is the disturbed degradation of the proteoglycans dermatan sulphate, heparan sulphate and chondroitin sulphate, which are stored excessively in internal organs (including the CNS).

ManifestationThis section has been translated automatically.

Congenital or occurring up to the 4th LJ.

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: Hepatosplenomegaly, inguinal or umbilical hernias, corneal opacity, macrocephalus, growth retardation from birth, mental retardation usually from the 3rd LJ, dysostosis.

Progression/forecastThis section has been translated automatically.

Congenital manifestation is associated with high mortality (Hydrops fetalis). In mild cases survival up to the 2nd decade.

LiteratureThis section has been translated automatically.

  1. Saxonhouse MA et al (2003) Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites. J Perinatol 23: 73-75
  2. Sly WS, Quinton BA, McAlister WH, Rimoin, DL (1973) Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis. J Pedia. 82: 249-257
  3. Sly WS (2002) Enzyme replacement therapy: from concept to clinical practice. Acta Paediatr Suppl 91: 71-78
  4. Storch S et al (2003) Mutational analysis in longest known survivor of mucopolysaccharidosis type VII Hum Genet 112: 190-194

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer