Summary
α-Aminoadipic acid (αAA) is an intermediate in lysine metabolism. We report a new case with αAA excess in urine and plasma, without α-ketoadipic acid, in a full-term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clonazepam, and Vigabatrin and death occurred on the 38th day of life. Brain imaging suggested antenatal haemorrhage. Small quantities of αAA were also detected in the blood and urine of both parents and a healthy brother, all three of whom exhibited the same defect in platelet aggregation as the deceased child. Both parents had decreased levels of plasma neopterin, a finding that might be related to the immunodeficiency described in other cases.
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Andersen GM, Young JG, Cohen DJ, Schicht KR, Patel N (1981) Liquid chromatographic determination of serotonin and tryptophan in whole blood and plasma.Clin Chem 27: 775–776.
Brown RR, Borden EC, Sondel PM, Lee CM (1987)Progress in Tryptophan and Serotonin Research in 1986. Berlin, New York: Walter de Gruyter, 19.
Candito M, Cavenel C, Gugenheim J et al (1993)J Chromatogr 614: 164–168.
Casey RE, Zaleski WA, Philip M, Mendelson IS, MacKenzie SL (1978) Biochemical and clinical studies of a new case of α-aminoadipic aciduria.J Inher Metab Dis 1: 129–135.
Duran M, Beemer FA, Wadman SK, Wendel U, Janssen B (1984) A patient with α-ketoadipic and α-aminoadipic aciduria.J Inher Metab Dis 7: 61.
Fischer MH, Brown RR (1980) Tryptophan and lysine metabolism in alpha-aminoadipic aciduria.Am J Med Genet 5: 35–41.
Fischer MH, Gerritsen T, Opitz JM (1974) α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect.Humangenetik 24: 265–270.
Goodman SI, Freeman FE (1989) Organic acidemias due to defects in lysine oxidation. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. McGraw-Hill: New York, 845–855.
Gray RGF, O'Neill EM, Pollitt RJ (1979) α-Aminoadipic aciduria: chemical and enzymatic studies.J Inher Metab Dis 2: 89–92.
Hardisty RM, Caen X (1981) Disorders of platelet function. In Bloom AL, Thomas DP, eds.Haemostasis and Thrombosis. Churchill Livingstone: Edinburgh, 301.
Huber C, Batchelor J, Fuchs D et al (1984) Immune response-associated production of neopterin. Release from macrophage primarily under control of interferon-gamma.J Exp Med 160: 310.
Jakobs C, de Grauwe AJC (1992) A fatal case of 2-keto-, 2-hydroxy-and 2-aminoadipic aciduria: Relation of organic aciduria to phenotype?J Inher Metab Dis 15: 279–280.
Krstulovic A, Friedman MJ, Colin H, Guiochon G, Gaspar M (1984) Analytical methodology for assays of serum tryptophan metabolites in control subjects and newly abstinent alcoholics: preliminary investigation by liquid chromatography with amperometric detection.J Chromatogr 297: 271–281.
Lormans S, Lowenthal A (1974) α-Aminoadipic aciduria in an oligophrenic child.Clin Chim Acta 57: 97–101.
Manders AJ, van Oostrom CG, Trijbels JMF, Rutten FJ, Kleijer WJ (1981) α-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child.Eur J Pediatr 136: 51–55.
Przyrembel H, Bachmann D, Lombeck I et al (1975) Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.Clin Chim Acta 58: 257–269.
Tobes MC and Mason M (1977) α-Aminoadipate aminotransferase and kynurenine aminotransferase. Purification, characterization and further evidence of identity.J Biol Chem 252: 4591–4599.
Vianey-Liaud C (1985) α-Aminoadipic acid and α-ketoadipic acid.J Inher Metab Dis 8 (supplement 2): 133–134.
Wendel U, Rudiger HW, Przyrembel H, Bremer HJ (1975) Alpha-ketoadipic aciduria: degradation studies with fibroblasts.Clin Chim Acta 58: 271–276.
Wilson RW, Wilson CM, Gates SC, Higgins JV (1975) Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation.Pediatr Res 9: 522.
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Candito, M., Richelme, C., Parvy, P. et al. Abnormal α-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage. J Inherit Metab Dis 18, 56–60 (1995). https://doi.org/10.1007/BF00711373
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DOI: https://doi.org/10.1007/BF00711373