DÄ internationalArchive17/2009Causes and Early Diagnosis of Vitamin B12 Deficiency: Risk Group includes infants

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Causes and Early Diagnosis of Vitamin B12 Deficiency: Risk Group includes infants

Dtsch Arztebl Int 2009; 106(17): 290-1. DOI: 10.3238/arztebl.2009.0291

Hartmann, H; Das, A M; Lücke, T

LNSLNS The authors say that even persons with vitamin B12 concentrations in the reference range may show signs of vitamin B12 deficiency. They recommend measuring biomarkers (serum holotranscobalamin, plasma methyl malonic acid, and plasma homocystein). Measuring MMA in spontaneous urine provides a reliable, simple, and cost effective alternative (1, 2). This can be done by using gas chromatography with subsequent mass spectrometry (GC-MS). In the medical fee schedule, number 3783, "organic acids profile" is rated at 570 points (= ca. 33.22 euros). Measuring MMA in urine as a "screening method" would shorten and simplify the flow chart suggested by the authors to diagnose vitamin B12 deficiency (figure 2).

The authors' listed risk group for deficiency includes pregnant and breast feeding women. However, it is important to also include infants, in whom prenatal and postnatal vitamin B12 deficiency can cause severe and partly irreversible neurological damage. We recently reported the case of 4 infants, in 2 of whom vitamin B12 deficiency was caused by the mother's unidentified pernicious anemia and in the other 2 by the mother's vegan diet. None of the mothers had clinical symptoms; severe developmental disorders in the babies, however, triggered diagnostic investigation, and raised excretion of MMA in the urine pointed the way. All babies showed neurological symptoms in later examinations (3). With regard to the severe pathology and the associated costs it is worth considering whether examination for vitamin B12 deficiency by measuring MMA in the urine by using GC-MS should be offered to all pregnant women.
DOI: 10.3238/arztebl.2009.0291


Dr. med. Hans Hartmann
Prof. Dr. med. Anibh Martin Das
PD Dr. med. Thomas Lücke
Zentrum Kinderheilkunde und Jugendmedizin
Päd. Nieren-, Leber- und Stoffwechselerkrankungen
Carl-Neuberg-Str. 1
30625 Hannover, Germany
neuropaediatrie@mh-hannover.de
1.
Specker BL, Miller D, Norman EJ, Greene H, Hayes KC: Increased urinary methylmalonic acid excretion in breast-fed infants of vegetarian mothers and identification of an acceptable dietary source of vitamin B-12. Am J Clin Nutr 1988; 47: 89–92. MEDLINE
2.
Norman EJ: Urinary methylmalonic acid test may have greater value than the total homocysteine assay for screening elderly individuals for cobalamin deficiency. Clin Chem 2004; 50: 1482–3. MEDLINE
3.
Lücke T, Korenke GC, Poggenburg I, Bentele KH, Das AM, Hartmann H: Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy. Z Geburtshilfe Neonatol 2007; 211: 157–61. MEDLINE
4.
Herrmann W, Obeid R: Causes and early diagnosis of Vitamin B12 deficiency [Ursachen und frühzeitige Diagnostik von Vitamin B12-Mangel]. Dtsch Arztebl Int 2008; 105(40): 680–5. VOLLTEXT
1. Specker BL, Miller D, Norman EJ, Greene H, Hayes KC: Increased urinary methylmalonic acid excretion in breast-fed infants of vegetarian mothers and identification of an acceptable dietary source of vitamin B-12. Am J Clin Nutr 1988; 47: 89–92. MEDLINE
2. Norman EJ: Urinary methylmalonic acid test may have greater value than the total homocysteine assay for screening elderly individuals for cobalamin deficiency. Clin Chem 2004; 50: 1482–3. MEDLINE
3. Lücke T, Korenke GC, Poggenburg I, Bentele KH, Das AM, Hartmann H: Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy. Z Geburtshilfe Neonatol 2007; 211: 157–61. MEDLINE
4. Herrmann W, Obeid R: Causes and early diagnosis of Vitamin B12 deficiency [Ursachen und frühzeitige Diagnostik von Vitamin B12-Mangel]. Dtsch Arztebl Int 2008; 105(40): 680–5. VOLLTEXT