Abstract

Inborn errors of metabolism are a group of hereditary diseases that can cause an accumulation of certain metabolites in body fluids and organs, interfere a transport of molecules and/or cause energy deficiency at the cellular level. The first symptoms of the disease can present in different age groups, and cause serious disabilities or premature death. Often the first manifestations of these diseases are highly non-specific, which makes timely diagnosis and treatment, and hence prevention of permanent damage, difficult. Based on our present statistics, in every second patient with metabolic disease in Estonia, the diagnosis is delayed or undiagnosed. At the beginning of 2014 a pilot study of expanded neonatal screening by tandem mass spectrometry for other 18 treatable metabolic diseases was started in Estonia. The paper presents a summary of screened metabolic diseases.