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Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.
Haematologica. 2005 Dec; 90(12 Suppl):ECR45.H

Abstract

Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine. Propionylcarnitine is included in tandem mass spectrometry-based newborn screening programs for detection of certain inborn errors of metabolism. We report two asymptomatic newborns with Vitamin B12 deficiency due to maternal deficiencies. One was detected incidentally at 3 weeks of age; the second on supplemental newborn screening based on elevated Propionylcarnitine at 2 days of age. This illustrates the potential for false negative results for Vitamin B12 deficiency screening by acylcarnitine profiling in newborn screening. Homocysteine and Methylmalonic acid may be better markers of Vitamin B12 deficiency. In conclusion, we suggest measuring Methylmalonic acid, Propionylcarnitine and Homocysteine levels in blood spots in expanded newborn screening in order to detect asymptomatic newborns with Vitamin B12 deficiency. Further studies are needed to establish the sensitivity of these three markers in screening for Vitamin B12 deficiency.

Authors+Show Affiliations

The Children's Hospital of Philadelphia, Section of Metabolism, PA 19104, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16464760

Citation

Campbell, C D., et al. "Two Newborns With Nutritional Vitamin B12 Deficiency: Challenges in Newborn Screening for Vitamin B12 Deficiency." Haematologica, vol. 90, no. 12 Suppl, 2005, pp. ECR45.
Campbell CD, Ganesh J, Ficicioglu C. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica. 2005;90(12 Suppl):ECR45.
Campbell, C. D., Ganesh, J., & Ficicioglu, C. (2005). Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica, 90(12 Suppl), ECR45.
Campbell CD, Ganesh J, Ficicioglu C. Two Newborns With Nutritional Vitamin B12 Deficiency: Challenges in Newborn Screening for Vitamin B12 Deficiency. Haematologica. 2005;90(12 Suppl):ECR45. PubMed PMID: 16464760.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. AU - Campbell,C D, AU - Ganesh,J, AU - Ficicioglu,C, PY - 2006/2/9/pubmed PY - 2006/6/6/medline PY - 2006/2/9/entrez SP - ECR45 EP - ECR45 JF - Haematologica JO - Haematologica VL - 90 IS - 12 Suppl N2 - Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine. Propionylcarnitine is included in tandem mass spectrometry-based newborn screening programs for detection of certain inborn errors of metabolism. We report two asymptomatic newborns with Vitamin B12 deficiency due to maternal deficiencies. One was detected incidentally at 3 weeks of age; the second on supplemental newborn screening based on elevated Propionylcarnitine at 2 days of age. This illustrates the potential for false negative results for Vitamin B12 deficiency screening by acylcarnitine profiling in newborn screening. Homocysteine and Methylmalonic acid may be better markers of Vitamin B12 deficiency. In conclusion, we suggest measuring Methylmalonic acid, Propionylcarnitine and Homocysteine levels in blood spots in expanded newborn screening in order to detect asymptomatic newborns with Vitamin B12 deficiency. Further studies are needed to establish the sensitivity of these three markers in screening for Vitamin B12 deficiency. SN - 1592-8721 UR - https://www.unboundmedicine.com/medline/citation/16464760/Two_newborns_with_nutritional_vitamin_B12_deficiency:_challenges_in_newborn_screening_for_vitamin_B12_deficiency_ DB - PRIME DP - Unbound Medicine ER -