Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 28 min ago
Peer-reviewedCC BYMedičnì Perspektivi

Disorders of vitamin B9 and B12 metabolism in children: prevalence, selected clinical aspects, and optimization of diagnostic approaches

  • I.S. Lembryk1
  • T.V. Shatynska1
  • H.M. Dutchak1
  • V.M. Voloshynovych1
  • O.V. Tymoshchuk1
  • O.I. Dmyterko1
  • N.O. Rumezhak1
  1. 1Ivano-Frankivsk National Medical University, Halytska str., 2, Ivano-Frankivsk, 76018
Read full textPDFDOICite

Abstract

Disorders of vitamin B9 and B12 metabolism is an important problem in modern pediatrics due to its prevalence, nonspecific clinical manifestations, and diagnostic difficulties. Aim – to evaluate the prevalence and features of vitamin B9 and B12 metabolic disorders in school-aged children, to assess the role of hyper­homocysteinemia in clinical manifestations, and to improve diagnostic approaches. We analyzed 100 scientific publications (70% PubMed and Google Scholar) and examined 84 children aged 6-16 years observed at Ivano-Frankivsk Regional Children’s Clinical Hospital (59.5%) and the medical center “Doctor Tsaruk” (40.5%) during 2023-2026. Serum concen­trations of vitamins B9 and B12 were determined using enzyme-linked immunosorbent assay, plasma homocysteine con­centration was measured by high-performance liquid chromatography, and MTHFR C677T and MTRR A66G polymor­phisms were analyzed using polymerase chain reaction. Cognitive status was assessed using a Likert-scale questionnaire developed by the authors. Vitamin B12 and B9 deficiency in Ukraine ranges from 13.5-18.9%. The main clinical features were fatigue (85.7%) and weakness (77.4%). Cognitive disorders were significantly more frequent in children aged 6-12 years than in adolescents (93.1% vs 25.0%; χ²=34.8; p<0.0001). Adolescents more often reported memory impairment (54.5%) and reduced attention (45.4%). Isolated vitamin B12 deficiency was found in 54.8% of children, vitamin B9 deficiency – in 29.7%, and combined deficiency – in 13%. Mean corpuscular volume was higher in the combined deficiency group (104.8±7.1 fL), indicating macrocytic changes. Methylmalonic acid levels were increased in B12-deficient and combi­ned groups. The MTHFR C677T homozygous variant was associated with higher homocysteine levels (r=0.64; p<0.0. Chil­dren with combined deficiency showed significantly worse cognitive perfor­mance than those with isolated deficiency (p<0.05). Thus, Vitamin B9 and B12 deficiency is an important risk factor for cognitive impairment in children. Combined deficiency has a more severe clinical impact which underscores the need for early diagnosis and the consideration of genetic factors. A pathogenetically grounded approach makes it possible to improve treatment outcomes and the prevention of neurological complications.

Related

  1. Editorial: Emerging treatment approaches for substance use disorders, vol II
    David Martinez Garza, Ilya O. Blokhin, Antoine B. Douaihy
    Frontiers in PsychiatryPeer-reviewedCC BY 4.0Full textPsychiatry & mental healthCrossrefDOAJ
  2. Editorial: Frontiers in diagnostic and therapeutic approaches in diabetic sensorimotor neuropathy, volume II
    Zoltán Kender, Péter Kempler
    Frontiers in EndocrinologyPeer-reviewedCC BY 4.0Full textPhysiologyCrossref
  3. Advances in Diagnostic Testing for Eosinophilic Esophagitis: Current Approaches, Limitations, and Emerging Technologies
    Maanasa Naga Laxmi Pulavarty, Amy Meehan, Cary Qualia
    Diagnostics (Basel, Switzerland)Peer-reviewedCC BYFull textGeneral medicineEurope PMC
  4. Sarcopenia in Hospitalized Patients: A Critical Narrative Review of Diagnostic and Nutritional Management Approaches
    Gavriela Voulgaridou, Spyridoula Ioanna Mourtziapi, George Panoutsopoulos +2
    NutrientsPeer-reviewedCC BYFull textNutritionEurope PMC
  5. Redefining diagnostic and management approaches to vancomycin adverse drug reactions
    Santiago Alvarez-Arango, Katherine C. Konvinse, Manaswini Pujar +3
    The journal of allergy and clinical immunology. In practicePeer-reviewedLicence not statedFull text2 citedPharmacology & toxicologyPMC

Cite

BibTeXRIS
BibTeX
@article{lembryk2026disorders,
  title = {{Disorders of vitamin B9 and B12 metabolism in children: prevalence, selected clinical aspects, and optimization of diagnostic approaches}},
  author = {I.S. Lembryk and T.V. Shatynska and H.M. Dutchak and V.M. Voloshynovych and O.V. Tymoshchuk and O.I. Dmyterko and N.O. Rumezhak},
  journal = {Medičnì Perspektivi},
  year = {2026},
  month = sep,
  doi = {10.26641/2307-0404.2026.3.376300},
  url = {https://doi.org/10.26641/2307-0404.2026.3.376300},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Disorders of vitamin B9 and B12 metabolism in children: prevalence, selected clinical aspects, and optimization of diagnostic approaches
AU  - I.S. Lembryk
AU  - T.V. Shatynska
AU  - H.M. Dutchak
AU  - V.M. Voloshynovych
AU  - O.V. Tymoshchuk
AU  - O.I. Dmyterko
AU  - N.O. Rumezhak
PY  - 2026
DA  - 2026/09/01
JO  - Medičnì Perspektivi
DO  - 10.26641/2307-0404.2026.3.376300
UR  - https://doi.org/10.26641/2307-0404.2026.3.376300
AB  - Disorders of vitamin B9 and B12 metabolism is an important problem in modern pediatrics due to its prevalence, nonspecific clinical manifestations, and diagnostic difficulties. Aim – to evaluate the prevalence and features of vitamin B9 and B12 metabolic disorders in school-aged children, to assess the role of hyper­homocysteinemia in clinical manifestations, and to improve diagnostic approaches. We analyzed 100 scientific publications (70% PubMed and Google Scholar) and examined 84 children aged 6-16 years observed at Ivano-Frankivsk Regional Children’s Clinical Hospital (59.5%) and the medical center “Doctor Tsaruk” (40.5%) during 2023-2026. Serum concen­trations of vitamins B9 and B12 were determined using enzyme-linked immunosorbent assay, plasma homocysteine con­centration was measured by high-performance liquid chromatography, and MTHFR C677T and MTRR A66G polymor­phisms were analyzed using polymerase chain reaction. Cognitive status was assessed using a Likert-scale questionnaire developed by the authors. Vitamin B12 and B9 deficiency in Ukraine ranges from 13.5-18.9%. The main clinical features were fatigue (85.7%) and weakness (77.4%). Cognitive disorders were significantly more frequent in children aged 6-12 years than in adolescents (93.1% vs 25.0%; χ²=34.8; p<0.0001). Adolescents more often reported memory impairment (54.5%) and reduced attention (45.4%). Isolated vitamin B12 deficiency was found in 54.8% of children, vitamin B9 deficiency – in 29.7%, and combined deficiency – in 13%. Mean corpuscular volume was higher in the combined deficiency group (104.8±7.1 fL), indicating macrocytic changes. Methylmalonic acid levels were increased in B12-deficient and combi­ned groups. The MTHFR C677T homozygous variant was associated with higher homocysteine levels (r=0.64; p<0.0. Chil­dren with combined deficiency showed significantly worse cognitive perfor­mance than those with isolated deficiency (p<0.05). Thus, Vitamin B9 and B12 deficiency is an important risk factor for cognitive impairment in children. Combined deficiency has a more severe clinical impact which underscores the need for early diagnosis and the consideration of genetic factors. A pathogenetically grounded approach makes it possible to improve treatment outcomes and the prevention of neurological complications.
SN  - 2307-0404
SN  - 2786-4804
ER  -