Sanfilippo disease in Greece.
In a series of cases collected in most parts of the world, Sanfilippo disease type A is more frequent than type B. Skin biopsies were obtained from Greek patients suspected for Sanfilippo disease and cultured fibroblasts were assayed for both N-acetyl-a-glucosaminidase and sulfamidase activity. Eleven patients with Sanfilippo disease were identified. Ten of them were type B and one type A. The 10 patients with type B came from East-Central Greece and the neighboring areas of Thessaly and Macedonia. Both parents of the type A patient were from the Greek ethnic community of Turkey. It remains unknown whether or not the higher frequency of type B than type A appears only in Greece or if it occurs in other Mediterranean countries as well.
Beratis
N G
NG
Sklower
S L
SL
Wilbur
L
L
Matalon
R
R
D000118:Acetylglucosaminidase / Q000172:deficiency; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D006115:Greece; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D009083:Mucopolysaccharidoses / Q000453:epidemiology*; D009084:Mucopolysaccharidosis III / Q000453:epidemiology* / Q000235:genetics
D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase; D000118:Acetylglucosaminidase