Results 11 to 20 of about 22,061 (226)

Pyruvate dehydrogenase deficiency in a young boy: a clinical case [PDF]

Клиническая практика
BACKGROUND: Pyruvate dehydrogenase deficit is a severe hereditary mitochondrial metabolic disease characterized by impaired energy metabolism and manifested by a wide range of neurological symptoms.
Galina Yu. Poretskova, Elena A. Kalinina, Natalia N Korotkova, Olga G. Bolgarova, Natalia N. Kuznetsova, Shamil I. Gaisin, Elizaveta O. Beschastnaya   +6 more
doaj   +2 more sources

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency [PDF]

Frontiers in Pediatrics
A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders.
Thi Thanh Ngan Nguyen, Nguyen Ngoc Khanh, Chi Dung Vu, Ngoc-Lan Nguyen, Van Khanh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Duc Quan, Nguyen Thanh Hien, Tran Thi Huong Giang, Nguyen Thi Xuan, Nguyen Thien Tao, Tran Van Khoa, Huy Hoang Nguyen   +13 more
doaj   +2 more sources

Pyruvate dehydrogenase complex deficiency masked by septic shock-induced lactic acidosis: a case report

Journal of International Medical Research
Pyruvate dehydrogenase complex (PDHC) deficiency is a common genetic disorder leading to lactic acidosis, which can also result from several nongenetic conditions, such as septic shock. The present study reports a case of PDHC deficiency masked by septic
Hao Zhou, Yin Wen, Hongguang Ding
doaj   +2 more sources

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

Endocrine Regulations, 2018
Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings ...
Danis Daniel, Brennerova Katarina, Skopkova Martina, Kurdiova Timea, Ukropec Jozef, Stanik Juraj, Kolnikova Miriam, Gasperikova Daniela   +7 more
doaj   +2 more sources

dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine

JCI Insight
Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disease caused by variants in DLD, the E3 subunit of mitochondrial α-keto (or 2-oxo) acid dehydrogenase complexes.
Manuela Lavorato, Donna Iadarola, Cristina Remes, Prabhjot Kaur, Chynna Broxton, Neal D. Mathew, Rui Xiao, Christoph Seiler, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk   +10 more
doaj   +2 more sources

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short‐ and long‐term outcomes [PDF]

, 2017
Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential ...
Viggedal, G, Sofou, Kalliopi,, Dahlin, M,, Darin, Niklas,, Lindefeldt, M, Niklas Darin, Lindefeldt, Marie, Tove Hallböök, Kalliopi Sofou, Darin, N, Dahlin, Maria, Viggedal, Gerd,, HallbooK, T, Sofou, K, Hallböök, Tove,, Maria Dahlin, Marie Lindefeldt, Gerd Viggedal   +17 more
core   +1 more source

Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

Orphanet Journal of Rare Diseases, 2021
Background No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge free radicals, putting ketogenic ...
Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen, Saskia B. Wortmann   +3 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

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. [PDF]

, 2013
Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine catabolism.
Jan-Willem Taanman, Shamima Rahman, Wanders, RJ, Waterham, Hans R., Abulhoul, Lara, Clayton, Peter T., Ronald JA Wanders, Waterham, HR, Rahman, Shamima, Lara Abulhoul, Ferdinandusse, S, Heales, SJ, Taanman, JW, Sacha Ferdinandusse, Brown, GK, Wanders, Ronald J. A., Hargreaves, Iain P., Leonard, James V., Roxana Gunny, Taanman, Jan-Willem, Wanders, RJA, Iain P Hargreaves, Abulhoul, L, Simon JR Heales, Ferdinandusse, Sacha, Heales, Simon J. R., Brown, Garry K., Hans R Waterham, Rahman, S, Peter T Clayton, Hargreaves, IP, James V Leonard, Gunny, R, Garry K Brown, Heales, SJR, Gunny, Roxana, Clayton, PT, Taanman, J-W, Leonard, JV   +38 more
core   +1 more source

Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias

Frontiers in Physiology, 2019
Congenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic enzyme deficiencies.
Polina Petkova-Kirova, Laura Hertz, Laura Hertz, Jens Danielczok, Rick Huisjes, Asya Makhro, Anna Bogdanova, Maria del Mar Mañú-Pereira, Joan-Lluis Vives Corrons, Richard van Wijk, Lars Kaestner, Lars Kaestner   +11 more
doaj   +1 more source