[Information and retrieval diagnostic system for inherited metabolic diseases].

The paper analyzes a procedure for construction and practical use of an information and retrieval diagnostic system (IRDS) for inherited metabolic diseases (IMD) in the context of an automatic working place for consulting genetics. An IRDS structure for IMD is proposed, which involves the following functional elements: 1) a genetic register; 2) an inherited metabolic disease database (IMDD); 3) a special module for searching for the probable range of diagnoses; 4) an archive; 5) a special model for statistical analysis of the clinical polymorphism of IMD. The full insight into each nosological entity (n = 316) as part of IMD IRDS is gained by using a set of catalogues, such as a catalogue IMD classes (n = 22), that of IMD clinical symptoms and signs (n = 1215); that of IMD biochemical markers (n = 934); a list of all symptoms and signs for each nosological entity; that of major diagnostic signs for each nosological entity.

[Program for diagnosis and prevention of inherited metabolic diseases of cellular organelles].

A programme for diagnosis and prevention of lysosomal, peroxisomal, and mitochondrial [respiratory chain diseases (RCD)] diseases was developed on clinical, biochemical, and molecular approaches. The authors made postnatal diagnosis was made in 674 patients from 516 families and prenatal diagnosis in 124 fetuses in 94 families at risk. DNA analysis of mutant alleles in the mucopolysaccharidoses (MPS) I, II, and VI revealed 14, 13, and 4 new mutant alleles in IDS, ASB, IDUA genes, respectively.