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Vitamin B12 metabolism gone awry : pathways, diseases, and therapy
- Author(s):
- Venditti, Charles P, speaker
- National Institutes of Health (US), issuing body
- Title(s):
- Vitamin B12 metabolism gone awry : pathways, diseases, and therapy / Charles P. Venditti.
- Series:
- NIH director's seminar series
- Country of Publication:
- United States
- Publisher:
- [Bethesda, Md.] : [National Institutes of Health], [2016]
- Description:
- 1 online resource (1 streaming video file (1 hr., 0 min.)) : color, sound.
-
Language:
- English
- Electronic Links:
- http://videocast.nih.gov/launch.asp?19701
- Summary:
- (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.
- MeSH:
- Amino Acid Metabolism, Inborn Errors
Cobamides/deficiency
Vitamin B 12/metabolism*
- Publication Type(s):
- Lecture
Webcast
- Notes:
- Recorded May 20, 2016.
Closed-captioned.
- Other ID:
- (DNLM)19701
(OCoLC)953229721
- NLM ID:
- 101684408 [Remote electronic resource, Videorecording]