Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Original Article
  • Published:

Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (cblC) in the Neonate

Journal of Perinatology volume 23, pages 384–386 (2003)Cite this article

Abstract

We report two infants with an inborn error of cobalamin (vitamin B12) metabolism whose clinical presentation in the first month of life strongly suggested bacterial or viral sepsis. The absence of any acute metabolic derangement (acidosis, hyperammonemia, hypoglycemia, or ketosis) in association with clinical features suggesting sepsis (lethargy, obtundation) could impede the correct diagnosis of cobalamin C (cblC) disorder. In addition, this is the first documentation of cerebrospinal fluid hyperhomocysteinemia in cblC defect that was highly increased and is likely to be associated with neurotoxicity in cblC patients.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1

Similar content being viewed by others

References

  1. Rosenblatt DS, Fenton WA . Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver C, Beaudet AL, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 3897–3933.

  2. Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR . Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 1997;20:528–538.

    Article  CAS  Google Scholar 

  3. Slocum RH, Cummings JG . Amino acid analysis of physiological samples. In: Hommes FA, editor. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss; 1991. p. 87–126.

    Google Scholar 

  4. Sweetman L . Organic acid analysis. In: Hommes FA, editor. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss; 1991. p. 143–176.

    Google Scholar 

  5. Rodriguez-Cortes H, Griener J, Hyland K, et al. Plasma homocysteine levels and folate status in children with sickle cell anemia. J Pediatr Hematol Oncol 1993;21:219–223.

    Article  Google Scholar 

  6. Gibson KM, Lee CF, Kamali V, et al. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. Clin Chem 1990;36:297–303.

    CAS  PubMed  Google Scholar 

  7. Surtees R, Bowron A, Leonard J . Cerebrospinal fluid and plasma total homocysteine and related metabolites in children with cystathionine beta-synthase deficiency: the effect of treatment. Pediatr Res 1997;42:577–582.

    Article  CAS  Google Scholar 

  8. Hershfield M, Mitchell B . Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In: Scriver C, Beaudet AL, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 2585–2626.

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics Oregon Health & Science University, Portland, OR, USA

    Cary O Harding MD, De-Ann M Pillers MD, PhD, Robert D Steiner MD & K Michael Gibson PhD

  2. Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA

    Cary O Harding MD, De-Ann M Pillers MD, PhD, Robert D Steiner MD & K Michael Gibson PhD

  3. Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX, USA

    Teodoro Bottiglieri PhD

  4. Departments of Human Genetics, Medicine, and Pediatrics, McGill University, MUHC, Montreal, Quebec, Canada

    David S Rosenblatt MD, PhD

  5. Department of Pediatrics, Legacy Emanuel Children's Hospital, Portland, OR, USA

    Jason Debley MD

Authors
  1. Cary O Harding MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. De-Ann M Pillers MD, PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Robert D Steiner MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Teodoro Bottiglieri PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. David S Rosenblatt MD, PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jason Debley MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. K Michael Gibson PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Presented in abstract form at the Annual Meeting, American College of Medical Genetics, March 8–12, 2000, Palm Springs, CA, USA. Published as: Gibson K, Steiner R, Grompe M, et al. Potential for clinical misdiagnosis of combined methylmalonic aciduria/homocysteinemia (MMA/HCYS) due to absence of acute metabolic derangement. Genet Med 2000;2:62.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Harding, C., Pillers, DA., Steiner, R. et al. Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (cblC) in the Neonate. J Perinatol 23, 384–386 (2003). https://doi.org/10.1038/sj.jp.7210955

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.jp.7210955

This article is cited by

Search

Advanced search

Quick links