We have, in this paper, highlighted some of the common problems in amino acid analysis in our experience and listed the possible causes for increases in specific amino acids in urine—together with guidance on appropriate follow-up investigations.
References
1.
HoltonJB. Diagnosis of inherited metabolic diseases in severely ill children. Ann Clin Biochem1982; 19: 389–96.
2.
SeriverCRRosenbergLE. Amino Acid Metabolism and Its Disorders. (Volume X in the Series Major Problems in Clinical Pediatrics.) Philadelphia: WB Saunders Company, 1973.
3.
GreenA.Inborn Errors of Metabolism. In: InsleyJ, ed. A Paediatric Vade-Mecum.11th Edn.London: Lloyd-Luke, 1986, 94–5.
4.
ErsserRSSmithI.Amino Acids and Related Compounds. Section I. In: SmithISeakinsJWT, eds. Chromatographic and Electrophoretic Techniques. (Volume I Paper and Thin Layer Chromatography. 4th Edn.) London: William Heinemann Medical Books Ltd., 1976, 75–121.
5.
BremerHJDuranMKamerlingJPDisturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis.Baltimore: Urban & Schwarzenberg, 1981.
6.
SimellOSipilaIAutioS. Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. Clin Chim Acta1983; 133: 227–32.
7.
HendersonMJAllenJTHoltonJBGoodallR. Extra heating of amino acids. Clin Chim Acta1985; 146: 203–5.
8.
HoltonJMcDermottA (eds). Directory of Laboratories Diagnosing Inborn Errors of Metabolism.2nd Edn.Society for the Study of Inborn Errors of Metabolism and the Prenatal Diagnosis Group, 1984.
9.
ThomasGHHowellRR. Selected Screening Tests for Genetic Metabolic Diseases.Chicago: Year Book Medical Publishers Inc., 1973.
10.
IrelandJTReadRA. A thin layer chromatographic method for use in neonatal screening to detect excess amino acidaemia. Ann Clin Biochem1972; 9: 129–32.
