CLINICAL APPROACH TO INBORN ERRORS OF AMINO ACIDS METABOLISM

Inborn errors of amino acids metabolism are an important cause of acute illness in newborns. They are disorders in which there is a block at some point in the normal metabolic pathway.Amino acids disorders are:Phenylketonuria, hyperphenylalaninemia, urea cycle defects, branched chain aminoacids disorders, organic acidemias, tyrosinaemias, albinism, alkaptonuria, hypermethioninemia, homocystinuria, hartnup disease, canavan disease, hyperglycinemia, serine disorder, hyperprolinemia, hyperhydroxyprolinemia, and glutathionemia.Newborn Screening Program:The newborn screening system consists of : newborn testing, follow-up of abnormal screening results, diagnostic testing, disease management, and continuous evaluation and improvement of the newborn screening system.Methods of newborn screening are : laboratory investigation chromatography, and tandem mass spectrometry.Diagnosis is important not only for treatment and prognosis but also for genetic counselling and antenatal diagnosis in subsequent pregnancies.