Abstract
In an infant with seizures in the neonatal period, ichthyosis congenita, and a muscular weakness a markedly increased urinary excretion of α-aminoadipic acid has been found (53-640/umoles/day). In plasma the aminoadipate cone, was 0.059 - 0.083/umoles/ml. After an oral lysine load thfe urinary aminoadipate increased markedly. Fibroblasts showed a decreased degradation of 14C-l-DL-α-aminoadipate to 14CO2 (10 per cent normal). The mother of the iniant also showed constantly some aminoadipate in the urine.
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Bremer, H., Wendel, U., Przyrembel, H. et al. Aminoadipaturia - a new defect of lysine metabolism. Pediatr Res 8, 904 (1974). https://doi.org/10.1203/00006450-197411000-00052
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DOI: https://doi.org/10.1203/00006450-197411000-00052