THE EFFECT OF POPULATION AREA ON PROTEOMIC INBORN ERRORS DISORDERS

Abstract

Inborn errors of metabolism (IEM) constitute a highly heterogeneous category of rare diseases, representing a relevant cause of morbidity and mortality. IEM result from enzymatic defects of the intermediary metabolism pathway which result in the accumulation of one or more amino/organic acid and/or metabolites. The biochemical hallmarks of these disorders can be detected by tandem mass spectrometry (MS/MS). The total number of patients with inborn errors of amino acid metabolism including phenylketonuria, maple syrup urine disease, tyrosinemia and non ketotic hyperglycinemia, homocystinuria, arginimia and citruillinimia presented to the Genetics Unit was 1000. They are divided into 851 patients with phenylketonuria, 109 patients with maple syrup urine disease, 14 patients with tyrosinemia, 15 patients with nonketotic hyperglycinemia, 4 patients with homocystinuria, 3 patients with arginimia and 4 patients with citruillinimia.