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The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
Int J Neonatal Screen
June 2024
Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.
Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases.
View Article and Find Full Text PDFNitrous oxide-induced polyneuropathy, pancytopenia and pulmonary embolism: a case report.
J Med Case Rep
August 2023
Physical and Rehabilitation Medicine Department, CHU Ambroise Paré, Mons, Wallonie, Belgium.
Background: Nitrous oxide is a medical and household gas that has seen its use drift to recreational purpose among the young population in recent years. Significant neurological, hematological and psychiatric side effects, generally related to an induced functional vitamin B12 deficiency, have been described separately in the literature.
Case Report: A 22-year-old woman of North African origin experienced an exceptional combination of polyneuropathy, bilateral pulmonary embolism and severe pancytopenia related to vitamin B12 deficiency and hyperhomocysteinemia induced by recreational nitrous oxide use.
Long-term intermittent hypoxia elevates cobalt levels in the brain and injures white matter in adult mice.
Sleep
October 2013
Center for Sleep and Circadian Neurobiology, University of Pennsylvania, Philadelphia, PA.
Study Objectives: Exposure to the variable oxygenation patterns in obstructive sleep apnea (OSA) causes oxidative stress within the brain. We hypothesized that this stress is associated with increased levels of redox-active metals and white matter injury.
Design: Participants were randomly allocated to a control or experimental group (single independent variable).
Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G.
Eur J Haematol
January 2006
Department of Neurology, St Mary's Hospital, London, UK.
We present a case of intracellular vitamin B12 deficiency presenting with confusion, subacute combined degeneration of the cord, megaloblastic anaemia and intrinsic factor antibodies in the serum. Diagnosis was delayed by a normal serum B12 level and was confirmed by a grossly elevated serum homocysteine. There was a dramatic response to steroids.
View Article and Find Full Text PDFMicrobiological activities of nucleotide loop-modified analogues of vitamin B12.
Arch Microbiol
July 1994
Department of Biotechnology, Faculty of Engineering, Okayama University, Japan.
Novel vitamin B12 analogues in which the D-ribose moiety of the nucleotide loop was replaced by an oligomethylene group and a trimethylene analogue containing imidazole instead of 5,6-dimethylbenzimidazole as well as cobinamide methyl phosphate were tested for biological activities with Escherichia coli 215, a B12- or methionine-auxotroph, and Lactobacillus leichmannii ATCC 7830 as test organisms. A cyano form of 5,6-dimethylbenzimidazolyl tetramethylene, trimethylene and hexamethylene analogues supported the growth of L. leichmannii in this order.
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