title: Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.
abstract: Two sisters from a large consanguineous Turkish family with Sanfilippo C disease presented within the first 2 years of life. They had coarse facial features, organomegaly and discrete radiological signs of dysostosis multiplex. Urinary glycosaminoglycan excretion was elevated, heparan sulfate being the major component. The uptake of radioactive sulfate into fibroblasts from both patients was abnormal. A deficiency of acetylCoA: alpha-glucosamine transferase was demonstrated in fibroblasts from one patient. To our knowledge, this is the first report of the disease presenting in early infancy.
mesh_terms: D000123:Acetyltransferases / Q000172:deficiency; D003241:Consanguinity; D005260:Female; D005860:Germany, West; D006801:Humans; D007223:Infant; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000235:genetics*; D010375:Pedigree; D014421:Turkey / Q000208:ethnology
chemical_list: D000123:Acetyltransferases; C020580:glucosamine acetyltransferase