Skip to main content
SpringerLink
Log in

Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy

  • Short Communication
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Gregersen, N. Riboflavin responsive defects ofβ-oxidation.J. Inher. Metab. Dis. 8 Suppl. 1 (1985) 65–69

    PubMed  Google Scholar 

  • Gregersen, N., Fjord Christensen, M., Christensen, E. and Kolvraa, S. Riboflavin responsive multiple acyl-CoA dehydrogenation defect.Acta Pediatr. Scand. 75 (1986) 676–681

    Google Scholar 

  • Manning, N. J., Olpin, S. E., Pollitt, R. J. and Webley, J. A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.J. Inher. Metab. Dis. 13 (1990) 58–68

    PubMed  Google Scholar 

  • Marshall, T., Roettger, V., Amendt, B. and Rhead, W. J. Riboflavin responsive multiple acyl coenzyme A dehydrogenase disorder (MAD): substrate oxidation, flavin metabolism and enzyme activities in fibroblasts.Vth International Congress of Inborn Errors of Metabolism, 1–5 June, 1990, New York, Society for Inherited Metabolic Disease. Abstract (in press)

  • Moon, A. and Rhead, W. J. Complementation analysis of fatty acid oxidation disorders.J. Clin. Invest. 79 (1987) 59–64

    PubMed  Google Scholar 

  • Rhead, W. J. and Fritchman, K. N. Riboflavin responsive ethylmalonic adipic aciduria (RR-EMA):In vitro confirmation of vitamin responsiveness in intact fibroblasts.Pediatr. Res. 17 (1983) 218A

    Google Scholar 

  • Saudubray, J. M., Coude, F. X., Demaugre, F., Johnson, C., Gibson, K. M. and Nyhan, W. L. Oxidation of fatty acids in cultured fibroblasts. A model system for the detection and study of defects in oxidation.Pediatr. Res. 16 (1982) 877–881

    PubMed  Google Scholar 

  • Wanders, R. J. A., Ijlst, L., Van Gennip, A. H., Jakobs, C., De Jager, J. P., Dorland, L., Van Sprang, F. J. and Duran, M. Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acidβ-oxidation.J. Inher. Metab. Dis. 13 (1990) 311–314

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Laboratoire de Biochimie, Hôpital Bicêtre, 94 275, Le Kremlin-Bicetre Cedex, France

    M. Brivet, A. Khellaf, A. Boutron & A. Lemonnier

  2. Service de Neurologie Pédiatrique, Hôpital Bicêtre, 94 275, Le Kremlin-Bicetre Cedex, France

    M. Tardieu

  3. INSERM U188 Hôpital St Vincent de Paul, Paris, France

    F. Rocchiccioli

  4. Pédiatrie, Hôpital Cantonal Universitaire de Genève, Geneva, Switzerland

    C. A. Haengeli

Authors
  1. M. Brivet
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. Tardieu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Khellaf
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Boutron
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. F. Rocchiccioli
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C. A. Haengeli
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. A. Lemonnier
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Brivet, M., Tardieu, M., Khellaf, A. et al. Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy. J Inherit Metab Dis 14, 333–337 (1991). https://doi.org/10.1007/BF01811696

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01811696

Keywords

Search

Navigation