Sanfilippo disease in Greece

Nicholas G. Beratis, Susan L. Sklower, Lorraine Wilbur, Reuben Matalon

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

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 sulfami‐dase 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.

Original languageEnglish (US)
Pages (from-to)129-132
Number of pages4
JournalClinical Genetics
Volume29
Issue number2
DOIs
StatePublished - Feb 1986
Externally publishedYes

Keywords

  • Genetic epidemiology
  • N‐acetyl‐α‐D‐glucosaminidase
  • Sanfilippo disease
  • mucopolysaccharidoses
  • sulfamidase

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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