Vitamin B12 deficiency – another challenge to expand newborn laboratory screening?

Czech version

Authors: Stanovský Samuel ¹; Bártl Josef ¹; Barvíková Kristýna ¹; Chrastina Petr ¹; Krijt Jakub ¹; Sokolová Jitka ¹; Berková Klára ²; Straňák Zbyněk ²; Tichá Katarína ³; Janota Jan ³; Eliášová Mária ⁴; Plavka Richard ⁴; Zach Jiří ⁵; Kožich Viktor ¹; Honzík Tomáš ¹
Authors‘ workplace: Klinika pediatrie a dědičných, poruch metabolismu, 1. lékařská fakulta, Univerzita Karlova, a Všeobecná fakultní, nemocnice, Praha ¹; Ústav pro péči o matku a dítě, Praha ²; Novorozenecké oddělení, Fakultní nemocnice Motol, Praha ³; Klinika gynekologie, porodnictví a neonatologie, 1. lékařská fakulta, Univerzita, Karlova a Všeobecná fakultní, nemocnice, Praha ⁴; Novorozenecké oddělení, Fakultní Thomayerova, nemocnice, Praha ⁵
Published in: Čes-slov Pediat 2024; 79 (3): 145-149.
Category: Original Papers
doi: https://doi.org/10.55095/CSPediatrie2024/024

Overview

Introduction: Cobalamin (Cbl, B₁₂) deficiency manifests in infancy as failure to thrive, macrocytic anemia, hypotonia, developmental delay/regression, microcephaly, and epilepsy. One of the causes of B₁₂ deficiency in newborns is in-utero acquired deficiency caused by maternal deficiency. Following the example of other EU countries, we present interim data from a pilot project of newborn laboratory screening (NLS) for Cbl deficiency, which has been conducted at cooperating Prague hospitals.

Methods: At least one abnormal primary marker is required for suspected B₁₂ deficiency: propionylcarnitine > 3.8 μmol/l, propionylcarnitine/acetylcarnitine ratio > 0.3, methionine < 7 μmol/l, propionylcarnitine/methionine ratio > 0.5 (determined by tandem mass spectrometry). Secondary markers include methylmalonic acid (MMA) > 2.5 μmol/l and total homocysteine (tHcy) > 12 μmol/l. In the case of NLS positivity, both the newborn and the mother undergo a Cbl absorption test. We determine total B₁₂ (measured by electrochemiluminescence immunoassay), holoTC (measured by chemiluminescence immunoassay), folates (measured by electrochemiluminescence immunoassay), serum MMA

Keywords:

vitamin B12 – : newborn screening – cobalamin – B12 deficiency

Sources

Korespondenční adresa:

prof. MUDr. Tomáš Honzík, Ph.D.
Klinika pediatrie a dědičných poruch metabolismu 1. LF UK a VFN
Ke Karlovu 455/2
128 08 Praha 2
e-mail: tomas.honzik@vfn.cz

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