High incidence of low vitamin B12 levels in Estonian newborns
| Autor: | Katrin Õunap, Mari-Anne Vals, Kai Muru, Kadi Künnapas, Karit Reinson, Annika Kriisa |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Newborn screening
Pediatrics medicine.medical_specialty Tandem mass spectrometry Elevated propionylcarnitine tHcy total homocysteine MMA methylmalonic acid Congenital deficiency NBS newborn screening 03 medical and health sciences 0302 clinical medicine Endocrinology Met methionine 030225 pediatrics Genetics Medicine C2 acetylcarnitine Vitamin B12 Molecular Biology lcsh:QH301-705.5 Biochemical markers DBS dried blood spots lcsh:R5-920 C3 propionylcarnitine business.industry Incidence (epidemiology) food and beverages Congenital vitamin B12 deficiency MS mass spectrometry lcsh:Biology (General) C16 palmitoylcarnitine High incidence business lcsh:Medicine (General) 030217 neurology & neurosurgery After treatment Research Paper |
| Zdroj: | Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 1-5 (2018) Molecular Genetics and Metabolism Reports |
| ISSN: | 2214-4269 |
| Popis: | Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have diagnosed 14 newborns with congenital acquired vitamin B12 deficiency. Therefore, the incidence of that condition is 33.8/100,000 live births, which is considerably more than previously believed. None of the newborns had any clinical symptoms associated with vitamin B12 deficiency before the treatment, and all biochemical markers normalized after treatment, which strongly supports the presence of treatable congenital deficiency of vitamin B12. During the screening period, we began using actively ratios of some metabolites like propionylcarnitine (C3) to acetylcarnitine (C2) and C3 to palmitoylcarnitine (C16) to improve the identification of newborns with acquired vitamin B12 deficiency.In the light of the results obtained, we will continue to screen the congenital acquired vitamin B12 deficiency among our NBS program. Every child with aberrant C3, C3/C2 and C3/C16 will be thoroughly examined to exclude acquired vitamin B12 deficiency, which can easily be corrected in most cases. Keywords: Newborn screening, Tandem mass spectrometry, Congenital vitamin B12 deficiency, Elevated propionylcarnitine |
| Databáze: | OpenAIRE |
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