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3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal

  • Metabolic Diseases
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Abstract

3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other, which includes a majority of the patients studied, we document that the activity of this enzyme in fibroblast extracts is normal. The phenotype of this disorder is one of profound neurological impairment with retarded psychomotor development, hypotonicity and/or spasticity, convulsions or EEG abnormalities, and sensorineural changes in the eye and ear.

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Abbreviations

3-MG-CoA:

3-methylglutaconyl coenzyme A

PAS:

periodic acid-Schiff

ATP:

adenosine-5-triphosphate

HMG:

3-hydroxy-3-methylglutaric acid

3-HB:

3-hydroxybutyric acid

EDTA:

ethylene-diaminetetra-acetic acid

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Author information

Author notes

  1. K. Narisawa

    Present address: Department of Pediatrics, Tohoku University School of Medicine, 980, Sendai, Japan

Authors and Affiliations

  1. Department of Pediatrics, M-009B, University of California San Diego, 92093, La Jolla, CA, USA

    K. M. Gibson, W. L. Nyhan, L. Sweetman & K. Narisawa

  2. Kinderklinik der Universität, Mathildenstrasse 1, D-7800, Freiburg, Federal Republic of Germany

    W. Lehnert

  3. Service de Biochimie, Hopital Debrousse, 29 rue Soeur Bouvier, F-69322, Lyon Cedex 1, France

    P. Divry

  4. Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada

    B. H. Robinson

  5. Department of Pediatrics, Childrens Medical Centre, Medical College of Virginia, MCV Station, 23298, Richmond, VA, USA

    K. S. Roth

  6. “Het Wilhelmina Kinderziekenhuis”, University Children's Hospital, NL-3512 LK, Utrecht, The Netherlands

    F. A. Beemer, F. J. van Sprang, M. Duran & S. K. Wadman

  7. Service de Pédiatrie, Centre Hospitalier Régional de Lille, F-Lille, France

    B. Cartigny

Authors
  1. K. M. Gibson
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  2. W. L. Nyhan
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  3. L. Sweetman
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  4. K. Narisawa
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  5. W. Lehnert
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  6. P. Divry
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  7. B. H. Robinson
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  8. K. S. Roth
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  9. F. A. Beemer
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  10. F. J. van Sprang
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  11. M. Duran
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  12. S. K. Wadman
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  13. B. Cartigny
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Gibson, K.M., Nyhan, W.L., Sweetman, L. et al. 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal. Eur J Pediatr 148, 76–82 (1988). https://doi.org/10.1007/BF00441821

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  • DOI: https://doi.org/10.1007/BF00441821

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