Sanfillipo B syndrome; mucopolysaccharidosis 3B
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Pathology
- undegraded or partially degraded heparan sulfate which accumulates in lysosomes & is excreted in urine
Genetics
- autosomal recessvie
- defects in NAGLU are the cause of mucopolysaccharidosis 3B
Clinical manifestations
- severe mental deterioration
- mild somatic manifestations in childhood
- 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
More general terms
Additional terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
- ↑ UniProt http://www.uniprot.org/uniprot/P54802.html
- ↑ OMIM https://mirror.omim.org/entry/252920