Results 1 to 10 of about 20,491 (191)

Next Generation AAV-F Capsid gene therapy rescues disease pathology in a model of Pyruvate Dehydrogenase Complex Deficiency [PDF]

Abstract Pyruvate dehydrogenase complex deficiency (PDHD) is a severe mitochondrial disorder most frequently caused by pathogenic variants in PDHA1, leading to neurodevelopmental delay and early mortality, necessitating brain-targeted interventions.
Keegan A, Cetin O, Chilcott EM, Antinao Diaz J, Eaton S, Waddington SN, Counsell JR, Rahman S, Karda R.   +8 more
europepmc   +3 more sources

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
doaj   +1 more source

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 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

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

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

Orphanet Journal of Rare Diseases, 2022
Background Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation.
Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos   +7 more
doaj   +1 more source

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

Orphanet Journal of Rare Diseases, 2020
Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits.
Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera   +16 more
doaj   +1 more source