α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect

@article{Fischer1974AminoadipicAA,
  title={α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect},
  author={Milton H. Fischer and Theo Gerritsen and John M Opitz},
  journal={Humangenetik},
  year={1974},
  volume={24},
  pages={265-270}
}
A new inborn defect of amino acid metabolism, α-aminoadipic aciduria, which is probably situated in the metabolic breakdown pathway of lysine, is reported in 2 brothers. One of them was of borderline intelligence; the other was apparently normal in all respects. These 2 boys and another brother show a variant familial developmental pattern, which does not seem to be a true multiple congenital anomaly syndrome, while a sister of the mother has tuberous sclerosis. The retardation of the… CONTINUE READING

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Lysine metabolism in mammals

T. Gerritsen, M. L. Rehberg, It. A. Waisman
Bioehem . J . • 1973

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J. Herrmann
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