A complex view of vitamin B₁₂ deficiency in childhood

Česká verzia

Authors: K. Brennerová ¹; K. Juríčková ¹; C. Šebová ²; M. Ostrožlíková ²; J. Hornová ¹; M. Kolníková ³; V. Bzdúch ¹
Authors place of work: Detská klinika LFUK a Národneho ústavu detských chorôb, Bratislava ¹; Oddelenie laboratórnej medicíny, Národný ústav detských chorôb, Bratislava ²; Neurologická klinika LFUK a Národného ústavu detských chorôb, Bratislava ³
Published in the journal: Čes-slov Pediat 2018; 73 (6): 375-383.
Category:

Summary

Both the acquired disorders of vitamin B₁₂ (cobalamin) metabolism due to its deficiency and inherited disorders of vitamin B₁₂ may manifest with similar neurological and haematological symptoms. It is therefore necessary for pediatricians correctly evaluate these symptoms by investigation of serum concentration of vitammin B₁₂, holotranscobalamin, methylmalonic acid and total plasma homocysteine. These are basic parameters for differentiation between the most common nutritional deficiency and rare inherited disorder of vitamin B₁₂. Expanded neonatal screening may be also helpful for early diagnosis.

Excellent results of early treatment have patients with secondary cobalamin deficiency. Patients with inherited disorder of cobalamin metabolism also benefit from prompt and correct treatment.

KEY WORDS:

vitamin B₁₂, holotranscobalamin, deficiency, metabolic disorder, homocysteine, methylmalonic acid

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