Search results for "Vitamin B12 deficiency"
showing 2 items of 2 documents
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
2021
Abstract Background In infancy multiple acyl-CoA dehydrogenase deficiency (MADD) is commonly a severe inherited metabolic disease caused by genetic defects in electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase. Both enzymes require flavin adenine dinucleotide (FAD) as a cofactor. Riboflavin (vitamin B2) is a precursor in the synthesis of FAD. MADD can be detected by newborn screening (NBS) based on elevation of multiple acylcarnitines. Methods We present the results of two children whose NBS results and subsequent confirmatory testing resulted in a suspected diagnosis of MADD. In parallel in both children vitamin B12 deficiency was detected. Results Biochemical profiles n…
Haematological deficiencies in patients with recurrent aphthosis
2010
Background Recurrent aphthosis is a common oral ulcerative condition consisting also of a subset of similar ulcers, properly named 'aphthous-like' ulcers (ALU), linked to systemic diseases and among these, to iron, folic acid and vitamin B(12) deficiencies. Objectives The main objectives of this study were: (i) to evaluate the association between recurrent aphthosis and the most common predisposing factors; (ii) to assess the frequency of ALU in recurrent aphthosis; (iii) to verify the efficacy of a replacement therapy in all ALU patients. Methods Thirty-two adults with recurrent aphthosis and 29 otherwise healthy controls were consecutively recruited, interviewed and subjected to haematolo…