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 +4 more
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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.
Prashant Jauhari +3 more
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Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency [PDF]
Frontiers in PediatricsA pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders.
Thi Thanh Ngan Nguyen +13 more
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Pyruvate dehydrogenase complex deficiency disease is connected to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase [PDF]
Acta Crystallographica Section A Foundations and Advances, 2018 Frank Jordan +5 more
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Classic ketogenic diet-induced ketoacidosis in the treatment of pyruvate dehydrogenase deficiency: a case report and literature review [PDF]
BMC PediatricsBackground As a rare mitochondrial disorder, the pyruvate dehydrogenase complex (PDC) deficiency is a rare inborn disease characterized with glucose metabolism defects, which leads to neurological dysfunction, serum lactic acid buildup and a resultant ...
Rongrong Li +3 more
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Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype [PDF]
Human GenomicsPurpose Sengers-syndrome (S.S) is a genetic disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. All reported cases were genetically caused by biallelic mutations in the AGK gene.
Adel Shalata +20 more
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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 +7 more
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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 +7 more
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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 +4 more
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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 +6 more
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