Abstract
A new case of α-aminoadipic aciduria had an apparent immunodeficiency and died at the age of 4 months. The urine contained large amounts of α-aminoadipate and smaller quantities of α-keto- and α-hydroxyadipate.Post mortem, the highest concentrations of α-aminoadipate were found in liver and kidney. Enzymatic studies on liver and cultured fibroblasts failed to demonstrate the expected deficiency of α-aminoadipate aminotransferase, a result perhaps explicable by the presence of cytoplasmic aminotransferase activity.
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Carson, N. A. J. Saccharopinuria: a new inborn error of lysine metabolism.Proc. Symp. Soc. Study Inborn Errors Metab. 6 (1969) 163
Fischer, M. H., Gerritsen, T. and Opitz, J. M. Alpha-aminoadipic aciduria, a nondeleterious inborn metabolic defect.Humangenetik 24 (1974) 265
Gregersen, N., Brandt, N. J., Christensen, E., Gron, I., Rasmussen, K. and Brandt, S. Glutaric aciduria: Clinical and laboratory findings in two brothers.J. Pediatr. 90 (1977) 740
Lormans, S. and Lowenthal, A. Alpha-aminoadipic aciduria in an oligophrenic child.Clin. Chim. Acta 57 (1974) 97
Nakatani, Y., Fujioka, M. and Higashino, K. α-Aminoadipate aminotransferase of rat liver mitochondria.Biochim. Biophys. Acta 198 (1970) 219
Noda, C. and Ichihara, A. Control of ketogenesis from amino acids. 4. Tissue specificity in oxidation of leucine, tyrosine and lysine.J. Biochem. (Tokyo) 80 (1976) 1159
Przyrembel, H., Bachmann, D., Lombeck, I., Becker, K., Wendel, U., Wadman, S. K. and Bremer, H. J. Alphaketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.Clin. Chim. Acta 58 (1975) 257
Przyrembel, H., Wendel, U., Becker, K., Bremer, H. J., Bruinvis, L., Ketting, D. and Wadman, S. K. Glutaric aciduria type 2: report on a previously underscribed metabolic disorder.Clin. Chim. Acta 66 (1976) 227
Suda, T., Robinson, J. C. and Fjellstedt, T. A. Subcellular localization and tissue distribution of α-ketoadipate reduction and oxidation in the rat.Biochem. Biophys. Res. Commun. 77 (1977) 586
Tobes, M. C. and Mason, M. α-Aminoadipate aminotransferase and kynurenine aminotransferase. Purification, characterization and further evidence of identity.J. Biol. Chem. 252 (1977) 4591
Wendel, U., Rudiger, H. W., Pzryrembel, H. and Bremer, H. J. Alpha-ketoadipic aciduria: degradation studies with fibroblasts.Clin. Chim. Acta 58 (1975) 271
Wilson, R. W., Wilson, C. M., Gates, S. C. and Higgins, J. V. Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation.Pediatr. Res. 9 (1975) 522
Wilson, R. W., Wilson, C. M. and Higgins, J. V. Metabolism of alpha-aminoadipic and alpha-ketoadipic acids: studies using rat and beef liver, and human leucocytes.Clin. Chim. Acta 69 (1976) 323
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Gray, R.G.F., O'Neill, E.M. & Pollitt, R.J. α-aminoadipic aciduria: Chemical and enzymatic studies. J Inherit Metab Dis 2, 89–92 (1979). https://doi.org/10.1007/BF01805664
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DOI: https://doi.org/10.1007/BF01805664