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Abstract
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.The newborn screening system consists of : newborn testing, follow-up of abnormal screening results, diagnostic testing, disease management, and Newborn Screening Program:
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.