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Vitamin B12 Metabolism Gone Awry: Pathways, Diseases and Therapy

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Air date: Friday, May 20, 2016, 12:00:00 PM
Time displayed is Eastern Time, Washington DC Local
Views: Total views: 161, (69 Live, 92 On-demand)
Category: NIH Director's Seminars
Runtime: 01:00:30
Description: NIH Director's Seminar Series

Vitamin B12, also called cobalamin, is an essential micronutrient that plays a critical role in human physiology. After absorption, transport and intracellular metabolism, dietary vitamin B12 is converted into methyl – and 5’-deoxyadenosyl-cobalamin, the active cofactors for the enzymes methionine synthase (MS) and methylmalonyl-CoA mutase (MUT). The study of patients with genetic defects in vitamin B12 metabolism and cobalamin-dependent enzymes has provided unique insights into the role these enzymes play in amino and organic acid metabolism. One group of disorders caused by deficient activity of MUT are the hereditary methylmalonic acidemias (MMA), grave and heterogenous inborn errors of organic acid metabolism. In this talk, I will give an overview of vitamin B12 metabolic disorders, including MMA, and describe how patient observations, coupled with animal models, have afforded an increased understanding of cobalamin and organic acid metabolism, and led to the development of new treatment approaches, including gene therapy.
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NLM Title: Vitamin B12 metabolism gone awry : pathways, diseases, and therapy / Charles P. Venditti.
Author: Venditti, Charles P.
National Institutes of Health (U.S.),
Publisher:
Abstract: (CIT): NIH Director's Seminar Series. Vitamin B12, also called cobalamin, is an essential micronutrient that plays a critical role in human physiology. After absorption, transport and intracellular metabolism, dietary vitamin B12 is converted into methyl - and 5"-deoxyadenosyl-cobalamin, the active cofactors for the enzymes methionine synthase (MS) and methylmalonyl-CoA mutase (MUT). The study of patients with genetic defects in vitamin B12 metabolism and cobalamin-dependent enzymes has provided unique insights into the role these enzymes play in amino and organic acid metabolism. One group of disorders caused by deficient activity of MUT are the hereditary methylmalonic acidemias (MMA), grave and heterogenous inborn errors of organic acid metabolism. In this talk, I will give an overview of vitamin B12 metabolic disorders, including MMA, and describe how patient observations, coupled with animal models, have afforded an increased understanding of cobalamin and organic acid metabolism, and led to the development of new treatment approaches, including gene therapy.
Subjects: Amino Acid Metabolism, Inborn Errors
Cobamides--deficiency
Vitamin B 12--metabolism
Publication Types: Lectures
Webcasts
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NLM Classification: QU 194
NLM ID: 101684408
CIT Live ID: 19184
Permanent link: https://videocast.nih.gov/launch.asp?19701