Affordable Access

[A program of prevention of hereditary lysosomal diseases in the USSR].

Authors
  • Krasnopol'skaia, K D
  • Mirenburg, T V
  • Aronovich, E L
  • Lebedeva, T V
  • Akhunov, V S
  • Odinokova, O N
  • Chebysheva, M V
  • Demina, N A
  • Nikiforova, O K
  • Kuznetsov, M I
Type
Published Article
Journal
Vestnik Rossiĭskoĭ akademii meditsinskikh nauk / Rossiĭskaia akademiia meditsinskikh nauk
Publication Date
Jan 01, 1992
Issue
4
Pages
20–24
Identifiers
PMID: 1384872
Source
Medline
License
Unknown

Abstract

The organization of genetic counselling for the families of patients with lysosomal storage diseases (LSD) was based on the interaction of the genetic counselling units of this country with a laboratory of inherited metabolic diseases of the National Research Center of Medical Genetics, USSR AMS. All the patients from 705 families at risk were examined using biochemical techniques and methods of somatic cell genetics. In total the loci differentiation was performed for 309 patients with mucopolysaccharidoses, glycoproteinoses, mucolipidoses, sphingolipidoses and other LSD. 53 families at risk (of 277) were prenatally diagnosed. 66 fetuses were diagnosed for mucopolysaccharidoses, type I, II, III, A and B, VI, Tay-Sachs disease, Sandhoff's disease, GM1-gangliosidosis, metachromatic leukodystrophy, mannosidosis, and multiple sulfatidosis. In total 18 affected fetuses were diagnosed and aborted. All the prenatal diagnoses were verified. The prevalence of mucopolysaccharidoses in two Central Asian republics was evaluated as 1:15,000. An Uneven ethnic distribution of different mucopolysaccharides in the USSR has also been shown.

Report this publication

Statistics

Seen <100 times