Abstract

BINDI,, Verónica; EIROA,, Hernán  and  DIAZ,, Lilian. Acquired and inherited disorders of vitamin B12 deficiency in children. Salud(i)Ciencia [online]. 2023, vol.25, n.4, pp.216-222.  Epub June 28, 2023. ISSN 1667-8682.  http://dx.doi.org/10.21840/siic/171972.

Vitamin B12 is an essential micronutrient for cell growth and the development of the central nervous system. Its deficiency can manifest clinically as megaloblastic anemia, peripheral neuropathy, myelopathy and neuropsychiatric disorders. Early detection and treatment are essential as it can cause irreversible neurological sequelae. Diagnosis is often challenging as it is based on clinical and biochemical features. Clinically, the symptoms are nonspecific and equivocal. Biochemically, there is no gold standard to detect Cobalamin deficiency. The available biomarkers do not have a defined cut-off value or are not sensitive or specific enough. This article exposes the different causes of vitamin B12 deficiency, analyzes the advantages and disadvantages of biochemical markers and, for the first time, proposes an algorithmic diagnosis using biomarkers and therapeutic tests. The ultimate goal is to alert pediatricians to the difficulties of diagnosing vitamin B12 deficiency and strategies are proposed to differentiate between acquired and congenital cobalamin conditions. Finally, the treatment according to the etiology is described in a practical manner, as well as the expected time for improvement of the biochemical parameters.

Keywords : vitamin B12; cobalamin; malnutrition; biomarkers; anemia.

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