Prenatal and postnatal treatment in cobalamin C defect

Martina Huemer, Burkhard Simma, Brian Fowler, Terttu Suormala, Olaf A. Bodamer, Jörn Oliver Sass

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

Objective: To evaluate prenatal treatment with hydroxycobalamin (OH-Cbl) in a pregnancy at risk for a severe form of the cobalamin C defect and postnatal treatment of the affected child. Study design: Observational study with non-randomized intervention. Results: In contrast to reported pregnancies with affected fetuses in which maternal methylmalonic aciduria was found in the last trimester of pregnancy, there was no maternal methylmalonic aciduria in our case, given prenatal treatment with intramuscular OH-Cbl. We did not find that the concentration of odd long-chain fatty acids in cord blood erythrocytes reflects fetal methylmalonic academia. After birth, the infant was treated with intramuscular OH-Cbl and oral carnitine. Oral folate and betaine were added as adjunct therapy to decrease plasma total homocysteine. Because of inadequate metabolic control, a diet reduced in natural protein was introduced. The child had normal developmental milestones but had nystagmus, hyperpigmented retinopathy, and discrete truncal muscular hypotonia. Conclusions: Despite prenatal and postnatal treatment, adequate metabolic control, absence of metabolic crises, and normal developmental milestones, this patient with the cobalamin C defect had characteristic symptoms of the disease.

Original languageEnglish
Pages (from-to)469-472
Number of pages4
JournalJournal of Pediatrics
Volume147
Issue number4
DOIs
StatePublished - Oct 1 2005

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Vitamin B 12
Pregnancy
Hydroxocobalamin
Mothers
Therapeutics
Betaine
Muscle Hypotonia
Carnitine
Third Pregnancy Trimester
Homocysteine
Fetal Blood
Folic Acid
Observational Studies
Fetus
Fatty Acids
Erythrocytes
Parturition
Diet
hydroxide ion
Proteins

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Huemer, M., Simma, B., Fowler, B., Suormala, T., Bodamer, O. A., & Sass, J. O. (2005). Prenatal and postnatal treatment in cobalamin C defect. Journal of Pediatrics, 147(4), 469-472. https://doi.org/10.1016/j.jpeds.2005.04.040

Prenatal and postnatal treatment in cobalamin C defect. / Huemer, Martina; Simma, Burkhard; Fowler, Brian; Suormala, Terttu; Bodamer, Olaf A.; Sass, Jörn Oliver.

In: Journal of Pediatrics, Vol. 147, No. 4, 01.10.2005, p. 469-472.

Research output: Contribution to journalArticle

Huemer, M, Simma, B, Fowler, B, Suormala, T, Bodamer, OA & Sass, JO 2005, 'Prenatal and postnatal treatment in cobalamin C defect', Journal of Pediatrics, vol. 147, no. 4, pp. 469-472. https://doi.org/10.1016/j.jpeds.2005.04.040
Huemer M, Simma B, Fowler B, Suormala T, Bodamer OA, Sass JO. Prenatal and postnatal treatment in cobalamin C defect. Journal of Pediatrics. 2005 Oct 1;147(4):469-472. https://doi.org/10.1016/j.jpeds.2005.04.040
Huemer, Martina ; Simma, Burkhard ; Fowler, Brian ; Suormala, Terttu ; Bodamer, Olaf A. ; Sass, Jörn Oliver. / Prenatal and postnatal treatment in cobalamin C defect. In: Journal of Pediatrics. 2005 ; Vol. 147, No. 4. pp. 469-472.
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