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

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Summary

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 propositus cannot be attributed to α-aminoadipic aciduria or tuberous sclerosis.

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References

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Authors and Affiliations

  1. Central Wisconsin Colony and Training School, Madison, Wisconsin, USA

    Milton H. Fischer

  2. Department of Pediatrics, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin, USA

    Theo Gerritsen

  3. Department of Medical Genetics, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin, USA

    John M. Opitz

Authors
  1. Milton H. Fischer
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  2. Theo Gerritsen
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  3. John M. Opitz
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Additional information

Supported by grants from the United States Public Health Service HD-05342, 5 K04, HD-18982 and GM-20130.

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Fischer, M.H., Gerritsen, T. & Opitz, J.M. α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect. Hum Genet 24, 265–270 (1974). https://doi.org/10.1007/BF00297590

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  • DOI: https://doi.org/10.1007/BF00297590

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