Newborn screening for remethylation disorders and vitamin B 12 deficiency-evaluation of new strategies in cohorts from Q
- PDF / 224,060 Bytes
- 8 Pages / 595.22 x 842 pts (A4) Page_size
- 36 Downloads / 147 Views
Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin Fang-Hoffmann, Georg F. Hoffmann, Hilal Al Rifai, Jürgen G. Okun Heidelberg, Germany
Methods: A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers. Proposed cut-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany. Results: Over a 12 months period, the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%, while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for Qatar. In the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one
Author Affiliations: University Hospital Heidelberg, Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, Heidelberg, Germany (Gramer G, Fang-Hoffmann J, Hoffmann GF, Okun JG); Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar (Abdoh G, Ben-Omran T, Shahbeck N, Ali R, Mahmoud L, Al Rifai H) Corresponding Author: Gwendolyn Gramer, University of Heidelberg, Center for Pediatric and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany (Tel: +49-622156-4002; Fax: +49-6221-56-6391; Email: [email protected]) doi: 10.1007/s12519-017-0003-z
©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2017. All rights reserved.
World J Pediatr, Online First, January 2017 . www.wjpch.com
patient with an isolated remethylation disorder. Additional retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cut-offs used in the proposed new strategy. In addition, an adapted strategy for Germany using methionine, methionine-phenylalanine-ratio and propionylcarnitine as first-tier, and homocysteine as a second-tier test was also positively evaluated retrospectively. Conclusions: The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency in the screening panel, while lowering the recall rate. An adapted second-tier strategy is presented for screening in Germany and will be prospectively evaluated over the next y
Data Loading...
