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B Vitamins: Small molecules, big effects

Rahman, S; Baumgartner, M; (2019) B Vitamins: Small molecules, big effects. [Editorial comment]. Journal of Inherited Metabolic Disease , 42 (4) pp. 579-580. 10.1002/jimd.12127. Green open access

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Abstract

In this themed issue of the Journal of Inherited Metabolic Disease, we review the roles of six of the B vitamins in human disease, focussing on treatable inborn errors of metabolism. The special issue starts with a review of thiamine metabolism. O'Callaghan et al provide a comprehensive review of the riboflavin transporter disorders, emphasising the role of mitochondrial dysfunction in the pathophysiology of these neuronopathic syndromes. Balasubramaniam et al then focus on disorders of riboflavin metabolism, in particular the recently discovered flavin adenine dinucleotide (FAD) synthase deficiency, and the rapidly growing list of riboflavin‐responsive disorders associated with mutations in the human flavoproteome (i.e., the >90 human proteins that use FAD or flavin mononucleotide [FMN] as cofactors). Two reviews focus on B6 dependent seizures. Crowther et al provide new insights into human lysine degradation pathways relevant for pyridoxine‐dependent epilepsy caused by antiquitin deficiency, whilst the second reviews all the known causes of B6‐dependent seizures, including the recently discovered disorder of an intracellular PLP‐binding protein (PLPBP deficiency). The roles of biotin in metabolism, gene expression and human disease are examined. Analytical methods for detecting cerebral folate deficiency and discuss the differential diagnosis of this condition, including disorders of folate transport and metabolism, secondary deficiencies related to other inborn errors and acquired causes. Finally, there is a comprehensive review of vitamin B12, folate and the methionine remethylation cycle, focussing on biochemical pathways and regulation, accompanied by a clinical review of the cobalamin‐related disorders.

Type: Article
Title: B Vitamins: Small molecules, big effects
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/jimd.12127
Publisher version: https://doi.org/10.1002/jimd.12127
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10077402
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