Methylmalonic acidLC-MS/MSHolotranscobalaminImmunoassayVitamin-B12 deficiencyMeasurement of total-B12 has been suggested to lack sensitivity to detect vitamin B_(12) deficiency. Methylmalonic acid (MMA) and Holotranscobalamin (Holo-TC) are recommended to be more sensitive markers for B_(12) ...
Clin- ical sensitivity was highest for more easily recognizable conditions (phenylketonuria, 100%) and lowest for combined homocystinuria/methylmalonic aciduria (2008A, 76.3%). Despite compelling clinical scenarios, clinical sensitivity was also lower for several challenges where the differential diagnosis...
For example, the abundance of urine malonic acid with respect to methylmalonic acid is informative for differential diagnosis of malonic aciduria. Although GUM successfully detected both analytes in our patient with malonyl-CoA decarboxylase deficiency, there was insufficient quantitative information to ...
Results : Only 16.2% of patients with macrocytic anaemia, 7.8% of patients with isolated macrocytosis and 6.5% of patients with normocytic anaemia were tested for vitamin B12 and/or folate deficiency. Metabolite assays such as homocysteine and methylmalonic acid were not requested as part of a ...
The results of intrinsic factor antibody (IF antibody) tests are often taken into consideration with the results of other laboratory tests to help make a diagnosis. When a person has a decreased vitamin B12 level and/or increased methylmalonic acid and homocysteine levels and has IF antibodies, ...
Methylmalonic Acid Homocysteine Intrinsic Factor Antibody Complete Blood Count (CBC) Blood Smear Get Tested Resources Centers for Disease Control and Prevention: Laboratory Procedure Manual Vitamin B12Learn More National Institutes of Health: Office of Dietary Supplements: Vitamin B12 Fact Sheet for Consumer...
These researchers measured serum vitamin B12, plasma folate, serum methylmalonic acid (MMA), pHcy as well as cerebrospinal fluid (CSF) MMA and Hcy in 72 patients with MS and 23 controls. The mean pHcy level was significantly increased in MS patients (11.6 micromol/L) compared with controls ...
AN-Quantitation of THC and THC Metabolites in Blood Using SOLAμ SPE Plates and the TSQ Quantiva Triple Quadrupole Mass Spectrometer for Forensic Analysis AN-Quantitative Analysis of Methylmalonic Acid in Plasma Using SOLAμ Plates for Sample Preparation and a TSQ Endura Triple Quadrupole Mass Spectrom...
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J. Inherit. Metab. Dis. 2021, 44, 566–592. [Google Scholar] [CrossRef] [PubMed] Yim, J.; Yau, O.; Yeung, D.F.; Tsang, T.S.M. Fabry Cardiomyopathy: Current Practice and...
Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B12 with metabolites (methylmalonic acid with or without homocysteine) and serum protein immunofixation electrophoresis (Level C...