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Perioperative considerations of pyruvate dehydrogenase complex deficiency: a case report of two consecutive anesthesia [PDF]

Anesthesia and Pain Medicine, 2023
Background Pyruvate dehydrogenase complex (PDHC) deficiency is a rare mitochondrial disorder caused by a genetic mutation affecting the activity of the PDHC enzyme, which plays a major role in the tricarboxylic cycle.
Won Yong Lim, Hyeon-Jeong Lee, Eun Ji Park, Soeun Jeon, Wangseok Do, Hyae Jin Kim, Dowon Lee, Jeong-Min Hong   +7 more
doaj   +1 more source

Coenzyme A-Dependent Tricarboxylic Acid Cycle Enzymes Are Decreased in Alzheimer’s Disease Consistent With Cerebral Pantothenate Deficiency

Frontiers in Aging Neuroscience, 2022
Sporadic Alzheimer’s disease (sAD) is the commonest cause of age-related neurodegeneration and dementia globally, and a leading cause of premature disability and death.
Crystal Sang, Sasha A. Philbert, Danielle Hartland, Richard. D Unwin, Andrew W. Dowsey, Jingshu Xu, Garth J. S. Cooper, Garth J. S. Cooper   +7 more
doaj   +1 more source

Mitochondrial Encephalomyopathy Associated with Pyruvate Dehydrogenase Complex Deficiency: Eight Clinical Cases

Вопросы современной педиатрии, 2021
Background. Defects in pyruvate dehydrogenase complex (PDC), involved in the glycolysis products integration into the cells' energy metabolism, are one of the reasons of mitochondrial pathology development.
Ekaterina A. Nikolaeva, Svetlana Ya. Volgina, Chulpan D. Khaliullina, Sergey V. Bochenkov, Maria A. Danceva   +4 more
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Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment

Folia Morphologica, 2020
The main source of energy for brain and other organs is glucose. To obtain energy for all tissue, glucose has to come through glycolysis; then as pyruvate it is converted to acetyl-CoA by pyruvate dehydrogenase complex (PDC) and finally enters citric ...
A. Ebertowska, B. Ludkiewicz, I. Klejbor, N. Melka, J. Moryś   +4 more
doaj   +1 more source

Pyruvate dehydrogenase complex deficiency – a rare mitochondrial disease in a 4-year-old boy

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2020
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease characterized by a wide range of neurometabolic manifestations. The disease is caused by insuffici ency of this multienzyme complex, which ensures the integration of pyruvate (the carbohydrate metabolism product) into the cellular energy metabolism.
S. Ya. Volgina, Ch. D. Khaliullina, E. A. Nikolaeva, R. M. Sayfullina, A. R. Shakirova   +4 more
openaire   +2 more sources

Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes

Molecular Genetics & Genomic Medicine, 2021
Background Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism.
YanYan Ma, YaoGang Zhang, Tao Zhang, Zhu Man, XiaoMing Su, ShuJing Hao, TianZe Wang   +6 more
doaj   +1 more source

Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency

JCI Insight, 2022
Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disorder caused by depletion of DLD from α-ketoacid dehydrogenase complexes.
Chynna N. Broxton, Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk   +8 more
doaj   +1 more source

Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh's disease

Journal of Pediatric Neurosciences, 2017
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease.
Jauhari, Prashant, Sankhyan, Naveen, Vyas, Sameer, Singhi, Pratibha   +3 more
openaire   +3 more sources

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]

, 2019
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams, Alfadhel, Alfadhel, Alfadhel, Aljabri, Anwar, Aronson, Arts, Attwell, Baio, Banka, Barennes, Benton, Bettendorff, Bettendorff, Biesecker, Brown, Butterworth, Butterworth, Butterworth, Calhau, Carney, Chandrakumar, Chen, Cheung, Chornyy, Chugani, Colbert, Croft, Day, De Meirleir, Fattal-Valevski, Fattal-Valevski, Fleming, Forouhi, Foulon, Foulon, Fraccascia, Fraccascia, Fraser, Frustaci, Fujita, Galvin, Ganapathy, Gangolf, Ganie, Ghaleiha, Gibson, Giulivi, Gold, Greenwood, Gu, Harel, Hiffler, Hilker, Inaba, Ishaque, Israels, Jankowska-Kulawy, Junior, Kamasak, Karabatsiakis, Kelley, Kerns, Khaw, Kitamura, Kornreich, Kril, Laforenza, Leichter, Lindhurst, Liu, Lonsdale, Lonsdale, Lonsdale, Lorber, Lu, Lukienko, Luxemburger, Lương, Ma, Magos, Mahajan, Mahmood, Martel, Martin, Mayr, McLure, Mergenthaler, Mezzar, Mimouni-Bloch, Molina, Mulholland, Mulle, Muoio, Murata, Nabokina, Nabokina, Nardone, Navarro, Nikseresht, Obrenovich, Oishi, Opdenakker, Ortega Garcia, Ortigoza-Escobar, Pepersack, Perez-Duenas, Plaitakis, Prabakaran, Prohaska, Rabie, Randle, Renthal, Rindi, Rindi, Robinson, Roust, Rubio-Lopez, Said, Schaller, Scrimshaw, Sequeira Lopes da Silva, Shi, Singleton, Siu, Skjeldal, Smidt, Society, Song, Sperringer, Spiegel, Stargrove, Subramanian, Subramanian, Sweet, Tabarki, Talwar, Thomson, Thornalley, van den Brink, Vasconcelos, Vernau, Vernau, Vimokesant, Watkins, Wendel, Whitfield, Whitfield, Wierzbicki, Williams, Yang, Zhang, Zhao, Zuccoli   +154 more
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Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Molecular Genetics and Metabolism Reports, 2020
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman   +6 more
doaj   +1 more source