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Novel and established markers of cobalamin deficiency: complementary or exclusive diagnostic strategies.
Semin Vasc Med. 2005 May; 5(2):140-55.SV

Abstract

New developments in diagnostic markers and a better understanding of the limitations of traditional diagnostic strategies have allowed diagnosis of earlier stages and atypical forms of cobalamin deficiency. Still, there are no generally accepted guidelines for the definition, diagnosis, treatment, and follow-up of cobalamin deficiency. The new trend toward defining cobalamin deficiency purely on the basis of biochemical test outcomes in the absence of overt clinical signs and symptoms could, however, be problematic and may result in overdiagnosis and overtreatment. Use of metabolic markers for the assessment of cobalamin deficiency allows the demonstration of tissue deficiency, but the establishment of the cause of deficiency should also be part of the diagnostic approach. Four groups of diagnostic tests are currently available and these include total cobalamin and cobalamin fractions (such as holo-transcobalamin), tests of gastrointestinal dysfunction, tests of metabolic function, and different gene tests. Among the available tests, only homocysteine, methylmalonic acid, holo-transcobalamin, and possibly methylcitric acid are considered to be useful in clinical practice to add to cobalamin. Gastrointestinal function tests may identify the cause of cobalamin deficiency, whereas the diagnostic usefulness of genetic testing needs to be evaluated. This article provides an overview of recent developments and a reappraisal of novel and established diagnostic markers for cobalamin deficiency.

Authors+Show Affiliations

Department of Clinical Chemistry, Umeå University, Umeå, Sweden.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16047266

Citation

Schneede, Jörn, and Per Magne Ueland. "Novel and Established Markers of Cobalamin Deficiency: Complementary or Exclusive Diagnostic Strategies." Seminars in Vascular Medicine, vol. 5, no. 2, 2005, pp. 140-55.
Schneede J, Ueland PM. Novel and established markers of cobalamin deficiency: complementary or exclusive diagnostic strategies. Semin Vasc Med. 2005;5(2):140-55.
Schneede, J., & Ueland, P. M. (2005). Novel and established markers of cobalamin deficiency: complementary or exclusive diagnostic strategies. Seminars in Vascular Medicine, 5(2), 140-55.
Schneede J, Ueland PM. Novel and Established Markers of Cobalamin Deficiency: Complementary or Exclusive Diagnostic Strategies. Semin Vasc Med. 2005;5(2):140-55. PubMed PMID: 16047266.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel and established markers of cobalamin deficiency: complementary or exclusive diagnostic strategies. AU - Schneede,Jörn, AU - Ueland,Per Magne, PY - 2005/7/28/pubmed PY - 2005/9/30/medline PY - 2005/7/28/entrez SP - 140 EP - 55 JF - Seminars in vascular medicine JO - Semin Vasc Med VL - 5 IS - 2 N2 - New developments in diagnostic markers and a better understanding of the limitations of traditional diagnostic strategies have allowed diagnosis of earlier stages and atypical forms of cobalamin deficiency. Still, there are no generally accepted guidelines for the definition, diagnosis, treatment, and follow-up of cobalamin deficiency. The new trend toward defining cobalamin deficiency purely on the basis of biochemical test outcomes in the absence of overt clinical signs and symptoms could, however, be problematic and may result in overdiagnosis and overtreatment. Use of metabolic markers for the assessment of cobalamin deficiency allows the demonstration of tissue deficiency, but the establishment of the cause of deficiency should also be part of the diagnostic approach. Four groups of diagnostic tests are currently available and these include total cobalamin and cobalamin fractions (such as holo-transcobalamin), tests of gastrointestinal dysfunction, tests of metabolic function, and different gene tests. Among the available tests, only homocysteine, methylmalonic acid, holo-transcobalamin, and possibly methylcitric acid are considered to be useful in clinical practice to add to cobalamin. Gastrointestinal function tests may identify the cause of cobalamin deficiency, whereas the diagnostic usefulness of genetic testing needs to be evaluated. This article provides an overview of recent developments and a reappraisal of novel and established diagnostic markers for cobalamin deficiency. SN - 1528-9648 UR - https://www.unboundmedicine.com/medline/citation/16047266/Novel_and_established_markers_of_cobalamin_deficiency:_complementary_or_exclusive_diagnostic_strategies_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2005-872399 DB - PRIME DP - Unbound Medicine ER -