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Title: Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation

Abstract

Vitamin B12 deficiency is a frequently considered diagnosis for which there is no single, commonly available and accurate test. A urinary methylmalonic acid assay using gas chromatography-mass spectrometry has been proposed as the preferred test. We reviewed vitamin B12 assays on 1599 consecutive patients and prospectively studied all patients with low serum B12 levels (n = 75) and a random sample of patients with normal levels (n = 68). Of 96 evaluable patients, 7 had clinical deficiency. All 7 deficient patients had urinary methylmalonic acid levels greater than 5 micrograms/mg creatine (sensitivity, 100%; confidence interval, 65% to 100%). Of the 89 patients who were not clinically deficient, 88 had urinary methylmalonic acid levels less than or equal to 5 micrograms/mg creatinine (specificity, 99%). The overall test accuracy in this population was 99%. If the high sensitivity and specificity of the gas chromatography-mass spectrometry assay for urinary methylmalonic acid is supported by other clinical studies, the methylmalonic acid assay may become the reference standard for the diagnosis of vitamin B12 deficiency.

Authors:
; ; ; ; ;
Publication Date:
Research Org.:
Durham VA Medical Center, NC
OSTI Identifier:
6520874
Resource Type:
Journal Article
Journal Name:
Ann. Intern. Med.; (United States)
Additional Journal Information:
Journal Volume: 5
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; MALONIC ACID; BIOASSAY; VITAMIN B-12; NUTRITIONAL DEFICIENCY; DIAGNOSIS; GAS CHROMATOGRAPHY; ISOTOPE DILUTION; MASS SPECTROSCOPY; PATIENTS; URINE; BIOLOGICAL MATERIALS; BIOLOGICAL WASTES; BODY FLUIDS; CARBOXYLIC ACIDS; CHROMATOGRAPHY; DICARBOXYLIC ACIDS; DRUGS; HEMATINICS; HEMATOLOGIC AGENTS; ISOTOPE APPLICATIONS; MATERIALS; ORGANIC ACIDS; ORGANIC COMPOUNDS; SEPARATION PROCESSES; SPECTROSCOPY; TRACER TECHNIQUES; VITAMIN B GROUP; VITAMINS; WASTES; 550901* - Pathology- Tracer Techniques

Citation Formats

Matchar, D B, Feussner, J R, Millington, D S, Wilkinson, Jr, R H, Watson, D J, and Gale, D. Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation. United States: N. p., 1987. Web. doi:10.7326/0003-4819-106-5-707.
Matchar, D B, Feussner, J R, Millington, D S, Wilkinson, Jr, R H, Watson, D J, & Gale, D. Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation. United States. https://doi.org/10.7326/0003-4819-106-5-707
Matchar, D B, Feussner, J R, Millington, D S, Wilkinson, Jr, R H, Watson, D J, and Gale, D. 1987. "Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation". United States. https://doi.org/10.7326/0003-4819-106-5-707.
@article{osti_6520874,
title = {Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation},
author = {Matchar, D B and Feussner, J R and Millington, D S and Wilkinson, Jr, R H and Watson, D J and Gale, D},
abstractNote = {Vitamin B12 deficiency is a frequently considered diagnosis for which there is no single, commonly available and accurate test. A urinary methylmalonic acid assay using gas chromatography-mass spectrometry has been proposed as the preferred test. We reviewed vitamin B12 assays on 1599 consecutive patients and prospectively studied all patients with low serum B12 levels (n = 75) and a random sample of patients with normal levels (n = 68). Of 96 evaluable patients, 7 had clinical deficiency. All 7 deficient patients had urinary methylmalonic acid levels greater than 5 micrograms/mg creatine (sensitivity, 100%; confidence interval, 65% to 100%). Of the 89 patients who were not clinically deficient, 88 had urinary methylmalonic acid levels less than or equal to 5 micrograms/mg creatinine (specificity, 99%). The overall test accuracy in this population was 99%. If the high sensitivity and specificity of the gas chromatography-mass spectrometry assay for urinary methylmalonic acid is supported by other clinical studies, the methylmalonic acid assay may become the reference standard for the diagnosis of vitamin B12 deficiency.},
doi = {10.7326/0003-4819-106-5-707},
url = {https://www.osti.gov/biblio/6520874}, journal = {Ann. Intern. Med.; (United States)},
number = ,
volume = 5,
place = {United States},
year = {Fri May 01 00:00:00 EDT 1987},
month = {Fri May 01 00:00:00 EDT 1987}
}