Results 21 to 30 of about 8,951 (213)

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency. [PDF]

, 2014
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant.
Scheffler, Immo E
core   +1 more source

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. [PDF]

, 2013
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP.
Bain, MD, Bax, BE, Filosto, M, Moran, N, Scarpelli, M, Tonin, P   +5 more
core   +1 more source

Dystonia and Partial Cytochrome B Deficiency

Pediatric Neurology Briefs, 1991
An 18 year old female with idiopathic torsion dystonia associated with mitochondrial encephalomyopathy is reported from the Departments of Neurology, Pediatrics and Biochemistry, Wayne State University School of Medicine, Detroit, Michigan.
J Gordon Millichap
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

Exclusive neuronal expression of SUCLA2 in the human brain [PDF]

, 2013
SUCLA2 encodes the ATP-forming subunit (A-SUCL-) of succinyl-CoA ligase, an enzyme of the citric acid cycle. Mutations in SUCLA2 lead to a mitochondrial disorder manifesting as encephalomyopathy with dystonia, deafness and lesions in the basal ganglia ...
A Kowluru, A Minelli, A Navarro-Sastre, A Rotig, A Vozza, AA Gerencser, AC Yu, Aniko Gál, Arpád Dobolyi, Attila G. Bagó, B Przybyla-Zawislak, C Chinopoulos, C Chinopoulos, C Chinopoulos, C Chinopoulos, C Chinopoulos, C Miller, Christos Chinopoulos, DO Lambeth, E Brekke, E Ostergaard, E Ostergaard, E Ostergaard, E Ostergaard, E Pfaff, EE McKee, EE McKee, EF Kadrmas, Elsebet Ostergaard, F Conti, F Conti, G Kiss, JC Wallace, JD Johnson, JH Ottaway, L Milon, M Lopes-Cardozo, M Palkovits, M Thomson, Miklós Palkovits, ML Pall, Mária J. Molnár, N Westergaard, O Elpeleg, R Carrozzo, R Dringen, RF Labbe, RL Strausberg, RP Shank, S Tanner, Tamás Dóczi, TM Jenkins, U Sonnewald, Vera Adam-Vizi, X Li, Z Zhang   +55 more
core   +2 more sources

Thiamine-Responsive Congenital Lactic Acidosis Without MC

Pediatric Neurology Briefs, 2005
Six infants with thiamine-responsive congenital lactic acidosis (CLA), normal pyruvate dehydrogenase complex activity, and no evidence of mitochondrial encephalomyopathy, are reported from Tottori University, Yonago; National Children’s Medical Center ...
J Gordon Millichap
doaj   +1 more source

Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant

Frontiers in Genetics, 2022
Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT ...
Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura Ludovica Gramegna, Laura Ludovica Gramegna, Fiorina Bartiromo, Fiorina Bartiromo, Caterina Tonon, Caterina Tonon, Luca Morandi, Luca Morandi, Rocco Liguori, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Raffaele Lodi, Valerio Carelli, Valerio Carelli   +23 more
doaj   +1 more source

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

Molecular Genetics and Metabolism Reports, 2015
Mitochondrial disease involving complex II is rare among respiratory chain deficiencies and its genetic cause remains often unknown. Two main clinical presentations are associated with this biochemical defect: mitochondrial encephalomyopathy and ...
Anna Ardissone, Federica Invernizzi, Alessia Nasca, Isabella Moroni, Laura Farina, Daniele Ghezzi   +5 more
doaj   +1 more source

Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]

, 2018
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria, Brea-Calvo, Gloria, Trevisson, Eva   +2 more
core   +1 more source

Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunction.

PLoS ONE, 2011
Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related diseases for which there exists no effective treatment.
Alicia M Celotto, Wai Kan Chiu, Wayne Van Voorhies, Michael J Palladino   +3 more
doaj   +1 more source