SHORT REPORT

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene

C E Beesley¹, D Burke², M Jackson², A Vellodi³, B G Winchester¹, E P Young²

¹ Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
² Chemical Pathology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
³ Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK

Correspondence to:
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

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.

Keywords: Sanfilippo syndrome type D; mucopolysaccharidosis IIID; N-acetylglucosamine-6-sulphatase; mutation analysis

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