BACKGROUND Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of methylmalonic acid and homocysteine in the blood and urine. Most patients present...

To clarify the bioavailability of vitamin B12 in lyophylized purple laver (nori; Porphyra yezoensis), total vitamin B12 and vitamin B12 analogue contents in the laver were determined, and the effects of feeding the laver to vitamin B12-deficient rats were investigated. The amount of total vitamin B12 in the dried purple laver was estimated to be 54.5 and 58.6 (se 5.3 and 7.5 respectively) micro...

UNLABELLED A 10-year-old boy with transcobalamin II (TCII) deficiency on oral cyanocobalamin therapy presented with acute right hemiparesis and sensory axonal neuropathy in the context of an intercurrent viral illness. MRI demonstrated unilateral globus pallidus stroke with normal MRA. Echocardiogram was normal. Methylmalonic acid in serum was mildly elevated at 10.29 μmol/L (normal < 0.37 μmol...

BACKGROUND Elderly stroke survivors have been reported to be at risk of malnutrition and depression. Vitamin B-related metabolites such as methylmalonic acid and homocysteine have been implicated in depression. OBJECTIVE We conducted a study exploring the relationship between homocysteine and post-stroke depression. DESIGN THREE METHODOLOGIES WERE USED: Observational cohort study of elderly...

BACKGROUND The elderly population is particularly at risk for developing vitamin B12-deficiency. Serum cobalamin does not necessarily reflect a normal B12 status. The determination of methylmalonic acid is not available in all laboratories. Issues of sensitivity for holotranscobalamin and the low specificity of total homocysteine limit their utility. The aim of the present study is to establish...

BACKGROUND AND AIMS Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to de...