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Sanfillipo syndrome; mucopolysaccharidosis-3; polydystrophic oligophrenia; MPS3

Clinical manifestations: 1) onset after 3 years 2) mild somatic features 3) severe mental retardation Prognosis: Life expectancy: 2nd to 3rd decade

Related

heparan sulfate

Specific

Sanfillipo A syndrome; mucopolysaccharidosis 3A; MPS3a Sanfillipo B syndrome; mucopolysaccharidosis 3B Sanfillipo C syndrome; mucopolysaccharidosis 3C; MPS3c Sanfillipo D syndrome; mucopolysaccharidosis 3D; MPS3d

General

mucopolysaccharidosis (MPS)

Properties

ACCUMULATION: heparan sulfate

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
  2. Cotran et al Robbins Pathologic Basis of Disease, W.B. Saunders Co, Philadelphia, PA 1989 pg 150