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Description and clinical utility Amino acids in physiological fluids are mostly derived from the metabolism of body proteins. The concentrations of individual amino acids in plasma and urine are relatively stable. Enzyme deficiencies in biochemical pathways can lead to an accumulation of specific amino acids, enabling recognition and diagnosis of several metabolic diseases. An interpretation of each amino acid analysis is done by a qualified biochemist or biochemical geneticist. A "normal" interpretation is unlikely in the columns following metabolic disorders, especially if columns the sample was obtained during metabolic decompensation: Maple syrup urine disease (MSUD) Tyrosinemia Phenylketonuria (PKU) Argininosuccinate lyase columns deficiency Argininosuccinate synthetase deficiency (Citrullinemia) Propionic acidemia Methylmalonic aciduria Hyperlysinemia Histidinemia Ornithine transcarbamylase deficiency (OTC) alpha-Aminoadipic aciduria beta-Aminoisobutyric aciduria Hartnup disorder (urine) Cystinuria (urine) Cystinosis (urine) Homocystinuria Non-ketotic hyperglycinemia (NKH) (both plasma and CSF should be analyzed) Arginase deficiency Carbamyl phosphate synthetase I deficiency B.
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