| Autor: |
Wirthensohn M; Department of Pediatrics, Landeskrankenhaus Bregenz, 6900 Bregenz, Austria., Wehrli S; Department of Psychosomatics and Psychiatry, University Children's Hospital, University of Zurich, 8032 Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, 8050 Zurich, Switzerland.; Children's Research Centre, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland.; University Research Priority Program 'ITINERARE-Innovative Therapies in Rare Diseases', University of Zurich, 8032 Zurich, Switzerland., Ljungblad UW; Department of Pediatrics, Vestfold Hospital Trust, NO-3168 Tønsberg, Norway., Huemer M; Department of Pediatrics, Landeskrankenhaus Bregenz, 6900 Bregenz, Austria.; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland.; Vorarlberg University of Applied Sciences, Competence Area Healthcare and Nursing, 6850 Dornbirn, Austria. |
| Abstrakt: |
Pooled data from published reports on infants with clinically diagnosed vitamin B12 (B12) deficiency were analyzed with the purpose of describing the presentation, diagnostic approaches, and risk factors for the condition to inform prevention strategies. An electronic (PubMed database) and manual literature search following the PRISMA approach was conducted (preregistration with the Open Science Framework, accessed on 15 February 2023). Data were described and analyzed using correlation analyses, Chi-square tests, ANOVAs, and regression analyses, and 102 publications (292 cases) were analyzed. The mean age at first symptoms (anemia, various neurological symptoms) was four months; the mean time to diagnosis was 2.6 months. Maternal B12 at diagnosis, exclusive breastfeeding, and a maternal diet low in B12 predicted infant B12, methylmalonic acid, and total homocysteine. Infant B12 deficiency is still not easily diagnosed. Methylmalonic acid and total homocysteine are useful diagnostic parameters in addition to B12 levels. Since maternal B12 status predicts infant B12 status, it would probably be advantageous to target women in early pregnancy or even preconceptionally to prevent infant B12 deficiency, rather than to rely on newborn screening that often does not reliably identify high-risk children. |
