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Iminoglycinuria — A “harmless” inborn error of metabolism?

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Summary

A boy with iminoglycinuria was discovered during routine urinary amino acid screening of a series of children with severe visual handicap. In addition to iminoglycinuria and blindness due to Leber's tapeto-retinal degeneration, this boy has profound perceptive deafness dating from infancy. It is concluded, on the basis of a study of previous cases reported, that the iminoglycinuria is not causally related to his blindness and deafness and may represent an essentially harmless inborn error of metabolism. The view that he suffers from three distinct autosomal recessive conditions receives some support from the fact that he may be the offspring of a mating between full sibs.

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Authors and Affiliations

  1. Godfrey Robinson Unit (Royal National Institute for the Blind), Department of Research in Ophthalmology, Royal College of Surgeons, London

    G. R. Fraser, A. I. Friedmann, V. M. Patton, D. N. Wade & L. I. Woolf

  2. Department of the Regius Professor of Medicine, Radcliffe Infirmary, Oxford

    G. R. Fraser, A. I. Friedmann, V. M. Patton, D. N. Wade & L. I. Woolf

  3. Division of Medical Genetics Department of Medicine, University of Washington School of Medicine, 98105, Seattle, Wn., U.S.A.

    G. R. Fraser

  4. Section on Child Neurology National Institute of Neurological Disease and Blindness, National Institutes of Health, Bethesda, Maryland, U.S.A.

    V. M. Patton

  5. Kinsmen Laboratory of Neurological Research Department of Psychiatry Faculty of Medicine, University of British Columbia, Vancouver, B.C., Canada

    L. I. Woolf

Authors
  1. G. R. Fraser
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  2. A. I. Friedmann
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  3. V. M. Patton
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  4. D. N. Wade
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  5. L. I. Woolf
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Additional information

The results reported here are drawn in part from theses submitted by V.M.P. and D.N.W. to the University of Oxford in partial fulfilment of the requirements for the D. Phil. degree.

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Fraser, G.R., Friedmann, A.I., Patton, V.M. et al. Iminoglycinuria — A “harmless” inborn error of metabolism?. Hum Genet 6, 362–367 (1968). https://doi.org/10.1007/BF00286806

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  • DOI: https://doi.org/10.1007/BF00286806

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