Skip to main content
SpringerLink
Log in

Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband

  • RESEARCH NOTE
  • Published:
Journal of Genetics Aims and scope Submit manuscript

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

Figure 1
Figure 2

References

  • Abramowicz M. J., Andrien M., Dupont E., Dorchy H., Parma J., Duprez L. et al. 1994 Isodisomy of chromsome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J. Clin. Invest. 94, 418– 421.

  • Alireza Radmaesh T. Z. 2008 Methylmaonic acidemia: brain imaging findings in 52 children and a review of literature. Pediatr. Radiol. 38, 1054–1061.

  • Jansen R. and Ledley F. L. 1990 Heterozygous mutations at the mut locus in fibroblasts with mut-0 methylmalonic acidemiaidentified by polymerase chain reaction cDNA cloning. Am. J. Hum. Genet. 47, 808–814.

  • Ledley F. D., Levy H. L., Shih V. E., Benjamin R. and Mahoney M. J. 1984 Benign methylmalonic aciduria. New Eng. J. Med. 311, 1015–1018.

  • Matsui S. M., Mahoney M. J. and Rosenberg L. E. 1983 The natural history of inherited methylmalonic acidemias. New Eng. J. Med. 308, 857–861.

  • Morrow G. 3rd, Barness L. A., Cardinale G. J., Abeles R. H. and Flaks J. G. 1969 Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease. Proc. Natl. Acad. Sci. USA 63, 191–197.

  • Oberholzer V. G., Levin B., Burgess E. A. and Young W. F. 1967 Methlymalonic aciduria:an inborn error of metabolism leading to chronic metabolic acidosis. Arch. Dis. Child 42, 492–504.

  • Wasserstein M. P., Gaddipati S., Snyderman S. E., Eddleman K., Desnick R. J. and Sansaricq C. 1999 Successful pregnancy in severe methylmalonic acidemia. J. Inherit. Metab. Dis. 22, 788–794.

Download references

Acknowledgement

Authors thank the family members for their consent, support and cooperation throughout the period of this study.

Author information

Authors and Affiliations

  1. ATS GeneTech Private Limited, 6-3-1113/4, GVR Villa, Behind BS Makhtha Maisamma Temple, Greenlands, Begumpet, Hyderabad, 500 016, India

    AMEYA PALEJA & ANURADHA UDUMUDI

Authors
  1. AMEYA PALEJA
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. ANURADHA UDUMUDI
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to ANURADHA UDUMUDI.

Additional information

[Paleja A. and Udumudi A. 2015 Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband. J. Genet. 94, xx–xx]

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

PALEJA, A., UDUMUDI, A. Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband. J Genet 94, 295–298 (2015). https://doi.org/10.1007/s12041-015-0520-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12041-015-0520-2

Keywords

Search

Navigation