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Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index.
Ann Clin Biochem. 2020 07; 57(4):291-299.AC

Abstract

BACKGROUND

Vitamin B12 deficiency frequently appears in phenylketonuria patients having a diet poor in natural protein. The aims of this study were to evaluate vitamin B12 status in phenylketonuria patients by using combined indicator of vitamin B12 status (cB12) as well as methylmalonic acid and homocysteine, more specific and sensitive markers, in comparison with healthy controls.

METHODS

Fifty-three children and adolescents with phenylketonuria under dietary treatment and 30 healthy controls were assessed cross-sectionally. Serum vitamin B12 and folate concentrations were analysed by chemiluminescence immunoassay. Plasma methylmalonic acid and total homocysteine concentrations were measured by liquid chromatography-tandem mass spectrometry and liquid chromatography, respectively. cB12 was calculated by using a formula involving blood parameters.

RESULTS

Methylmalonic acid and folate concentrations in phenylketonuria group were higher compared with controls. Methylmalonic acid concentrations were high in 56.5% of the patients and 26.7% of the controls with normal vitamin B12 concentrations. Based on cB12, a significant difference within the normal values was detected between the groups. However, although 24.5% of phenylketonuria patients and 13.3% of controls had decreased vitamin B12 status according to cB12, there was no significant difference.

CONCLUSION

Children and adolescents with phenylketonuria having a strict diet can be at risk of functional vitamin B12 deficiency. This deficiency can be accurately determined by measuring methylmalonic acid concentrations. Calculation of cB12 as a biochemical index did not provide additional information compared with the measurement of methylmalonic acid alone, but may be helpful for classification of some patients with increased methylmalonic acid as having adequate vitamin B12 status.

Authors+Show Affiliations

Department of Medical Biochemistry, School of Medicine, Balikesir University, Balikesir, Turkey.Department of Medical Biochemistry, Institute of Health Sciences, School of Medicine, Dokuz Eylul University, Izmir, Turkey.Department of Pediatric Gastroenterology, Hepatology and Nutrition, Health Sciences University Antalya Training and Research Hospital, Antalya, Turkey.Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University, Izmir, Turkey.Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University, Izmir, Turkey.Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University, Izmir, Turkey.Department of Medical Biochemistry, School of Medicine, Dokuz Eylul University, Izmir, Turkey. Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylul University, Izmir, Turkey.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

32482081

Citation

Akış, Merve, et al. "Functional Vitamin B12 Deficiency in Phenylketonuria Patients and Healthy Controls: an Evaluation With Combined Indicator of Vitamin B12 Status as a Biochemical Index." Annals of Clinical Biochemistry, vol. 57, no. 4, 2020, pp. 291-299.
Akış M, Kant M, Işık İ, et al. Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index. Ann Clin Biochem. 2020;57(4):291-299.
Akış, M., Kant, M., Işık, İ., Kısa, P. T., Köse, E., Arslan, N., & İşlekel, H. (2020). Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index. Annals of Clinical Biochemistry, 57(4), 291-299. https://doi.org/10.1177/0004563220935140
Akış M, et al. Functional Vitamin B12 Deficiency in Phenylketonuria Patients and Healthy Controls: an Evaluation With Combined Indicator of Vitamin B12 Status as a Biochemical Index. Ann Clin Biochem. 2020;57(4):291-299. PubMed PMID: 32482081.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index. AU - Akış,Merve, AU - Kant,Melis, AU - Işık,İshak, AU - Kısa,Pelin Teke, AU - Köse,Engin, AU - Arslan,Nur, AU - İşlekel,Hüray, PY - 2020/6/3/pubmed PY - 2021/1/23/medline PY - 2020/6/3/entrez KW - Phenylketonuria KW - combined indicator of vitamin B12 status KW - functional vitamin B12 deficiency KW - homocysteine KW - methylmalonic acid KW - vitamin B12 SP - 291 EP - 299 JF - Annals of clinical biochemistry JO - Ann Clin Biochem VL - 57 IS - 4 N2 - BACKGROUND: Vitamin B12 deficiency frequently appears in phenylketonuria patients having a diet poor in natural protein. The aims of this study were to evaluate vitamin B12 status in phenylketonuria patients by using combined indicator of vitamin B12 status (cB12) as well as methylmalonic acid and homocysteine, more specific and sensitive markers, in comparison with healthy controls. METHODS: Fifty-three children and adolescents with phenylketonuria under dietary treatment and 30 healthy controls were assessed cross-sectionally. Serum vitamin B12 and folate concentrations were analysed by chemiluminescence immunoassay. Plasma methylmalonic acid and total homocysteine concentrations were measured by liquid chromatography-tandem mass spectrometry and liquid chromatography, respectively. cB12 was calculated by using a formula involving blood parameters. RESULTS: Methylmalonic acid and folate concentrations in phenylketonuria group were higher compared with controls. Methylmalonic acid concentrations were high in 56.5% of the patients and 26.7% of the controls with normal vitamin B12 concentrations. Based on cB12, a significant difference within the normal values was detected between the groups. However, although 24.5% of phenylketonuria patients and 13.3% of controls had decreased vitamin B12 status according to cB12, there was no significant difference. CONCLUSION: Children and adolescents with phenylketonuria having a strict diet can be at risk of functional vitamin B12 deficiency. This deficiency can be accurately determined by measuring methylmalonic acid concentrations. Calculation of cB12 as a biochemical index did not provide additional information compared with the measurement of methylmalonic acid alone, but may be helpful for classification of some patients with increased methylmalonic acid as having adequate vitamin B12 status. SN - 1758-1001 UR - https://www.unboundmedicine.com/medline/citation/32482081/Functional_vitamin_B12_deficiency_in_phenylketonuria_patients_and_healthy_controls:_An_evaluation_with_combined_indicator_of_vitamin_B12_status_as_a_biochemical_index_ L2 - https://journals.sagepub.com/doi/10.1177/0004563220935140?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -