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Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
  1. C E Beesley1,
  2. D Burke2,
  3. M Jackson2,
  4. A Vellodi3,
  5. B G Winchester1,
  6. E P Young2
  1. 1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
  2. 2Chemical Pathology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
  3. 3Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
  1. Correspondence to:
 Dr C E Beesley, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK;
 C.Beesley{at}ich.ucl.ac.uk

Abstract

Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. It is caused by a deficiency of N-acetylglucosamine-6-sulphatase, which is one of the enzymes involved in the catabolism of heparan sulphate. We present the clinical, biochemical, and, for the first time, the molecular diagnosis of a patient with Sanfilippo D disease. The patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of the protein. Accurate carrier detection is now available for other members of this consanguineous family.

  • Sanfilippo syndrome type D
  • mucopolysaccharidosis IIID
  • N-acetylglucosamine-6-sulphatase
  • mutation analysis

https://doi.org/10.1136/jmg.40.3.192

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