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Sanfillipo B syndrome; mucopolysaccharidosis 3B

Pathology: - undegraded or partially degraded heparan sulfate which accumulates in lysosomes & is excreted in urine Genetics: 1) autosomal recessvie 2) defects in NAGLU are the cause of mucopolysaccharidosis 3B Clinical manifestations: 1) severe mental deterioration 2) mild somatic manifestations in childhood 3) death in the 2nd decade of life Laboratory: - alpha-N-acetylglucosaminidase in fibroblasts - alpha-N-acetylglucosaminidase in leukocytes - alpha-N-acetylglucosaminidase in tissue - alpha-N-acetylglucosaminidase in serum/plasma - alpha-N-acetylglucosaminidase in urine

Related

alpha-N-acetylglucosaminidase; N-acetyl-alpha-glucosaminidase; NAG (NAGLU, UFHSD1) heparan sulfate

General

Sanfillipo syndrome; mucopolysaccharidosis-3; polydystrophic oligophrenia; MPS3

Properties

ACCUMULATION: heparan sulfate DEFICIENCY: N-ACETYLGLUCOSAMIDASE

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
  2. UniProt :accession P54802
  3. OMIM :accession 252920