title: Physicochemical hair conformation of patients with Sanfilippo disease type IIIA.
abstract: Sanfilippo disease type IIIA is an inborn error of metabolism with a deficiency in the heparan sulfamidase. Besides severe psychomotor retardation hair changes are obligatory. Hair is found to be coarse like a brush. We applied X-ray diffraction and infrared spectroscopy to characterize the conformation of hair samples of Sanfilippo patients. In healthy subjects as well as in the affected hair samples we found the wave numbers of structural relevance 1450, 1500, 1630, 1730, the pair 2337 and 2362, the quadruplet 2850, 2870, 2917, 2930 and 3080 cm-1. Also on X-ray diffraction analysis no differences could be detected. Though morphological-macroscopically and microscopically-changes were described for Sanfilippo hair samples, we could not find any change in supramolecular structure. The physical properties of coarseness of those hair specimen seems to be due to differences in the structural assembly of hair fibres and storage of heparan sulfate.
mesh_terms: D002648:Child; D006197:Hair / Q000032:analysis / Q000473:pathology*; D006801:Humans; D009083:Mucopolysaccharidoses / Q000473:pathology*; D009084:Mucopolysaccharidosis III / Q000473:pathology*; D013055:Spectrophotometry, Infrared; D014961:X-Ray Diffraction