2021年6月17日 · Primary pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation that mostly affects the brain and leads to decreased ATP production and energy deficit.

丙酮酸彻底氧化分解需要先转变为乙酰辅酶A，由 丙酮酸脱氢酶复合体 （pyruvate dehydrogenase complex，PDH或PDC）催化。 这个反应需要三种酶连续催化，依次称为E1（丙酮酸脱氢酶，pyruvate dehydrogenase (acetyl-transferring)，EC1.2.4.1）、E2（二氢硫辛酰胺转乙酰基酶，dihydrolipoyllysine-residue acetyltransferase，EC2.3.1.12）和E3（二氢硫辛酰胺脱氢酶，dihydrolipoyl dehydrogenase，EC1.8.1.4）。 需要注意的是有些酶的名称容易混淆，需要结 …

In pyruvate dehydrogenase complex (PDHC) deficiency, energy production from carbohydrate metabolism is severely reduced, and excess pyruvate is converted to lactate. The most common defect is in the alpha subunit of the E1 PDHC component, encoded on the X chromosome.

2018年8月1日 · Mutations such as that leading to the αV138M variant in pyruvate dehydrogenase, the pyruvate-decarboxylating PDHc E1 component, can result in PDHc deficiency, an inborn error of metabolism that results in an array of symptoms such as lactic acidosis, progressive cognitive and neuromuscular deficits, and …

Background: Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism. The diagnosis of PDHC is difficult because of the lack of a rapid, accurate, and cost-effective clinical diagnostic method.

2015年10月1日 · The pyruvate dehydrogenase complex (PDHc) is a member of a family of multienzyme complexes that provides the link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the physiologically irreversible decarboxylation of various 2-oxoacid substrates to their corresponding acyl-CoA derivatives, NADH and CO 2. PDHc deficiency is ...

PDHc deficiency is a metabolic disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration that vary with age and gender. In this review, we aim to discuss the relationship between occurrence of epilepsy and PDHc deficiency associated with the pyruvate dehydrogenase complex (E1α subunit (PDHA1 ...

摘要 综述了丙酮酸脱氢酶复合体 (PDHc)的组成、结构功能、调控机制、缺陷疾病及在医学和农业中的应用.丙酸酸脱氢酶系是定位在线粒体中的多酶复合体,它是由丙酮酸脱氢酶 (E1)、二氢硫辛酸乙酰转移酶 (E2)、二氢硫辛酸脱氢酶 (E3... 展开更多 综述了丙酮酸脱氢酶复合体 (PDHc)的组成、结构功能、调控机制、缺陷疾病及在医学和农业中的应用.丙酸酸脱氢酶系是定位在线粒体中的多酶复合体,它是由丙酮酸脱氢酶 (E1)、二氢硫辛酸乙酰转移酶 (E2)、二氢硫辛酸脱氢酶 (E3)和一 …

2021年6月14日 · Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex (PDC). The age of onset and severity of disease symptoms vary widely.

PDHC, a multienzyme complex composed of pyruvate dehydrogenase E1 (PDHE1), dihydrolipoamide transacetylase E2 (PDHE2), and dihydrolipoamide dehydrogenase E3 (PDHE3), serves as the critical hub in energy metabolism. Numerous studies have shown the positive regulatory role of PDHC in anaerobic glycolysis in sepsis.