Sanfilippo syndrome: a mini-review.

doi:10.1007/s10545-008-0838-5

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Article

Sanfilippo syndrome: a mini-review.

Journal of inherited metabolic disease - 1 Apr 2008

Valstar M J, Ruijter G J G, van Diggelen O P, Poorthuis B J, Wijburg F A

Abstract excerpt

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate. Based on the enzyme deficiency, four different subtypes, MPS IIIA, B, C, and D, are recognized. The genes encoding these four enzymes have been characterized and various mutations have...

Topics

Acetylglucosaminidase
Acetyltransferases
Adolescent
Adult
Animals
Child
Child, Preschool
Genetic Predisposition to Disease
Heparitin Sulfate
Humans
Hydrolases
Incidence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Lysosomes

Mucopolysaccharidosis III

Phenotype

Prognosis

Sulfatases

Source

Open in PubMed

Identifiers

PMID: 18392742
DOI: 10.1007/s10545-008-0838-5

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