Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.

Research on alkaptonuria (AKU; OMIM # 230500) in Slovakia started in 1968 by the Research Laboratory (later on the Institute) for Clinical Genetics at Martin. Its first stage was focused on clinical, biochemical, genetic and epidemiologic questions and on the reasons for the high prevalence of AKU in Slovakia. Based on a screening programme of now over 611,000 inhabitants (509,000 newborns) the world-wide highest incidence of AKU (1 in 19,000) was recorded, and a total of 208 patients (110 children) were registered.

Allelic heterogeneity of alkaptonuria in Central Europe.

Defects of the homogentisate 1,2 dioxygenase (HGO; E.C. No.

[Congenital developmental defects of the cardiovascular system from the aspect of genetic factors and dysmorphogenesis].

Congenital defects of cardiovascular system have marked impact on the morbidity, invalidization and mortality of human population. Genetic factors are the most important factors in their etiology. The authors analyze the role of genetic factors and some problems of cardiovascular dysmorphogenesis important for evaluation of the reasons and risk of repeated congenital heart diseases family occurrence using clinical data and professional literature.

Molecular defects in alkaptonuria.

At the dawn of human genetics Sir Archibald Garrod used alkaptonuria as a paradigm to demonstrate the applicability of the Mendelian laws to men and to develop the concept of inborn errors of metabolism. The human cDNA for homogentisate 1,2 dioxygenase was identified due to its homology to the corresponding mouse enzyme and was screened for mutations in alkaptonuric patients from Slovakia. Homozygous mutations were found in four unrelated families and their segregation with the disease was demonstrated.

The human gene for alkaptonuria (AKU) maps to chromosome 3q.

Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues.

[Active screening for genetic pathologic conditions in the pediatric population in the Dolný Kubín district].

In the child population in the district of Dolný Kubín the authors screened during a five-year period children with a suspect genetic aetiology of affections. They examined a total of 1058 children, i.e.

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease.

A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring. Control mean and ranges have been established: in urine 19.5 and 6.

[Chromosome aberrations in a group of mentally retarded persons].

Mental retardation (MR) is a frequent manifestation in patients referred to departments of medical genetics (OLG). At the OLG in Martin their number in the years 1981-1985 was 324, i.e.