Abstract

Background. Inborn metabolic diseases are the conditions affecting the biosynthesis or breakdown of substances within specific pathways, recognizable by specific biochemical tests. Individually they are rare, but altogether their prevalence is 1:2500.

Objectives. The aim of this research was to give an overview of inborn metabolic diseases diagnosed and of the patients treated at the Department of Clinical Genetics of Tartu University Hospital along with the diagnostic methods used during 1990–2017. Study design. Data from the Archive of the Department of Clinical Genetics and the electronic case history database was analysed. Additional information was obtained from the doctors and from the laboratory of molecular diagnostics. For every patient, personal identification code, year of birth, diagnosis, year of diagnosis, results of biochemical and molecular genetic analysis, treatment and present state were obtained.

Results. During 1990–2017 296 patients were diagnosed with inborn metabolic disease at the Department of Clinical Genetics. The most frequently diagnosed disease groups were disorders of amino acid metabolism (33.5%), lysosomal storage disorders (19.3%) and energy metabolism defects (18.9%). Statistical analysis revealed an increase in the prevalence of all inborn metabolic diseases during the years 1990-2017 from 0.31 cases per 100, 000 (1:327 654) to 1.60 cases (1:63 869). Out of the 296 patients diagnosed with inborn metabolic disease, 217 received their diagnosis in childhood. The live birth prevalence of inborn metabolic diseases was 36 per 100, 000 live births (1:2778).

Conclusions. The research showed a significant increase in the diagnostic capability of inborn metabolic diseases. Live birth prevalence (1:2778) found in this research correlates with the data presented in the literature.