Skip to main content

Advertisement

SpringerLink
Log in

Dilated cardiomyopathy with 3-methylglutaconic aciduria

  • Case Reports
  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

Summary

The case of an infant with both dilated cardiomyopathy and 3-methylglutaconic aciduria is presented. The literature on this subject is reviewed.

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

Similar content being viewed by others

References

  1. Barth PG, Scholte HR, Berden JA, et al. (1983) An X-linked mitochondrial disease affecting cardial muscle and neutrophil leucocytes.J Neural Sci 62:327–355

    Google Scholar 

  2. Elpeleg ON, Meiron D, Barash V, Hurwitz Y, Tal I, Amir N (1990) 3-Methylglutaconic aciduria with persistent metabolic acidosis and uncoupling episodes.J Inherited Metab Dis 13:235–236

    Google Scholar 

  3. Gibson KM, Nyhan WL, Sweetman L, et al. (1988) 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconylcoenzyme A hydratase is normal.Eur J Pediatr 148:76–82

    Google Scholar 

  4. Gibson KM, Sherwood WG, Hoffmann GF, et al. (1991) Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.J Pediatr 118:885–890

    Google Scholar 

  5. Ino T, Sherwood G, Cutz E, Benson LN, Rose V, Freedom RM (1988) Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism.J Pediatr 113:511–514

    Google Scholar 

  6. Ino T, Sherwood G, Benson LN, Wilson GJ, Freedom RM, Rowe RD (1988) Cardiac manifestation in disorders of fat and carnitine metabolism in infancy.JACC 6:1301–1308

    Google Scholar 

  7. Kelley RI, Clark BJ, Morton DH, Sherwood WG (1989) X-linked cardiomyopathy, neutropenia and increased urinary levels of 3-methylglutaconic and 2-ethylhydracrylic acids.Am J Hum Genet 45:A7

    Google Scholar 

  8. Kelley RI, Cheatham JP, Clark BJ (1991) X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.J Pediatr 119:738–747

    Google Scholar 

  9. Kohlschütter A, Hausdorf G (1986) Primary (genetic) cardiomyopathies in infancy: a survey of possible disorders and guidelines for diagnosis.Eur J Pediatr 145:454–459

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatric Cardiology, University Hospital St. Radboud, Geert Grooteplein zuid 20, 6500 HB, Nijmegen, The Netherlands

    J. M. T. Draaisma & O. Daniëls

  2. Department of Pediatrics, Hospital Elkerliek, Helmond, The Netherlands

    I. C. van Kesteren

  3. Department of Pediatrics, University Hospital St. Radboud, Nijmegen, The Netherlands

    R. C. A. Sengers

Authors
  1. J. M. T. Draaisma
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. I. C. van Kesteren
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. O. Daniëls
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. C. A. Sengers
    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

Draaisma, J.M.T., van Kesteren, I.C., Daniëls, O. et al. Dilated cardiomyopathy with 3-methylglutaconic aciduria. Pediatr Cardiol 15, 89–90 (1994). https://doi.org/10.1007/BF00817615

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00817615

Key words

Search

Navigation