Results 121 to 130 of about 3,572 (156)

Emerging trends in cardiovascular diseases: the impact of ferroptosis and cuproptosis on cardiomyocyte death. [PDF]

Mol Cell Biochem
Chen P, He P, Rao X, Ding M, Liu J, Chu Y, Xiao Y.   +6 more
europepmc   +1 more source

Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency

European Journal of Pediatrics, 2013
The E3 subunit of the pyruvate dehydrogenase complex (dihydrolipoamide dehydrogenase/dihydrolipoyl dehydrogenase/DLD/lipoamide dehydrogenase/LAD), is a mitochondrial matrix enzyme and also a part of the branched-chain ketoacid dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.
Ruby, Haviv, Avraham, Zeharia, Corinne, Belaiche, Yishai, Haimi Cohen, Ann, Saada   +4 more
openaire   +2 more sources

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

Annals of Neurology, 2005
AbstractPyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X‐linked gene for the E1α subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have
Rosemary A, Head, Ruth M, Brown, Zarazuela, Zolkipli, Raveen, Shahdadpuri, Mary D, King, Peter T, Clayton, Garry K, Brown   +6 more
openaire   +2 more sources

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline‐normal PDH complex activity

American Journal of Medical Genetics Part A, 2006
AbstractWe have diagnosed dihydrolipoamide dehydrogenase (DLD) deficiency in two male second cousins, who presented with markedly different clinical phenotypes. Patient 1 had a recurrent encephalopathy, and patient 2 had microcephaly and lactic acidosis.
Jessie M, Cameron, Valeriy, Levandovskiy, Neviana, Mackay, Julian, Raiman, Deborah L, Renaud, Joe T R, Clarke, Annette, Feigenbaum, Orly, Elpeleg, Brian H, Robinson   +8 more
openaire   +2 more sources

Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome

Molecular Genetics and Metabolism, 2013
The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. Specific changes in the levels of urinary and plasma metabolites are the hallmark of the classical form of the disease.
Anaïs, Brassier, Chris, Ottolenghi, Audrey, Boutron, Anne-Marie, Bertrand, Séverine, Valmary-Degano, Jean-Paul, Cervoni, Dominique, Chrétien, Jean-Baptiste, Arnoux, Laurence, Hubert, Daniel, Rabier, Florence, Lacaille, Yves, de Keyzer, Vincent, Di Martino, Pascale, de Lonlay   +13 more
openaire   +2 more sources

Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3‐nitropropionic acid neurotoxicity

Journal of Neurochemistry, 2004
AbstractAltered energy metabolism, including reductions in activities of the key mitochondrial enzymes α‐ketoglutarate dehydrogenase complex (KGDHC) and pyruvate dehydrogenase complex (PDHC), are characteristic of many neurodegenerative disorders including Alzheimer's Disease (AD), Parkinson's disease (PD) and Huntington's disease (HD ...
Peter, Klivenyi, Anatoly A, Starkov, Noel Y, Calingasan, Gabrielle, Gardian, Susan E, Browne, Lichuan, Yang, Parvesh, Bubber, Gary E, Gibson, Mulchand S, Patel, M Flint, Beal   +9 more
openaire   +2 more sources

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

Mitochondrion, 2014
Dihydrolipoamide dehydrogenase (DLD, E3) is a flavoprotein common to pyruvate, α-ketoglutarate and branched-chain α-keto acid dehydrogenases. We found two novel DLD mutations (p.I40Lfs*4; p.G461E) in a 19 year-old patient with lactic acidosis and a complex amino- and organic aciduria consistent with DLD deficiency, manifesting progressive exertional ...
Carrozzo R, Torraco A, Martinelli D, Di Nottia M, Rizza T, Verrigni D, Diodato D, Parisi G, Maiorana A, Rizzo C, Zucano S, Piemonte F, Bertini E, Dionisi Vici C., FIERMONTE, Giuseppe, VOZZA, Angelo, PIERRI, CIRO LEONARDO   +16 more
openaire   +2 more sources

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

Journal of Inherited Metabolic Disease, 2010
AbstractWe present a 32‐year‐old patient who, from age 7 months, developed photophobia, left‐eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise‐induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramatically after effort.
Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P   +6 more
openaire   +3 more sources

[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To analyze the clinical and genetic characteristics of a patient with dihydrolipoamide dehydrogenase deficiency.Potential variants of the DLD gene were detected by whole exome sequencing and verified by Sanger sequencing.Compound heterozygous variants, c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr), were detected in the DLD gene.
Shengnan, Wu, Yongxing, Chen, Qiong, Chen, Linghua, Shen, Haiyan, Wei   +4 more
openaire   +1 more source