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Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Abe ; K ; 1027 ; Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ; Acta Neurologica Scandinavica ; 1991 ; 83(6) ; 356-9
Adams ; PL ; 5673 ; Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. ; Ann Neurol ; 1997 ; 41(2) ; 268-70
Agapitos ; E ; 5675 ; Subacute necrotizing encephalomyelopathy (Leigh's disease): a clinicopathologic study of ten cases. ; Gen Diagn Pathol ; 1997 ; 142(5-6) ; 335-41
Arai ; Y. ; 197* ; Characteristic changes on brain CT in a case of Leigh encephalopathy with deficiency of pyruvate dehydrogenase ; Brain & Development ; 1991 ; 13(6) ; 457-8
Araki ; S ; 5685 ; Electrophysiological brainstem dysfunction in a child with Leigh disease. ; Pediatr Neurol ; 1997 ; 16(4) ; 329-33
Aral ; B ; 5686 ; Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. ; Am J Hum Genet ; 1997 ; 61(6) ; 1318-26
Ariga ; H ; 3146 ; Leigh syndrome: serial CT and MR imaging findings ; Nippon Igaku Hoshasen Gakkai Zasshi ; 1996 ; 56(12) ; 839-845
Athappilly ; FK ; 3152* ; Structure of the biotinyl domain of acetyl-coenzyme A carboxylase determined by MAD phasing. ; Structure ; 1995 ; 3(12) ; 1407-1419
Awata ; H ; 914* ; Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia. ; Journal of Inherited Metabolic Disease ; 1994 ; 17(2) ; 189-95
Bakker ; SJ ; 3165 ; Hypothesis on cellular ATP depletion and adenosine release as causes of heart failure and vasodilatation in cardiovascular beriberi. ; Med Hypotheses ; 1995 ; 45(3) ; 265-267
Behal ; RH ; 2473* ; Regulation of the pyruvate dehydrogenase multienzyme complex. [Review] ; Annual Review of Nutrition ; 1993 ; 13 ; 497-520
Bindoff ; LA ; 2519 ; Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation. [Review] ; Revue Neurologique ; 1991 ; 147(6-7) ; 526-31
Blair ; HJ ; 5722 ; Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. ; Hum Mol Genet ; 1998 ; 7(3) ; 549-55
Bonne ; G ; 2533* ; E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. ; Pediatric Research ; 1993 ; 33(3) ; 284-8
Briones ; P ; 3245 ; Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy ; J Inherit Metab Dis ; 1996 ; 19(6) ; 795-796
Broide ; E ; 5741 ; Type IV 3-methylglutaconic (3-MGC) aciduria: a new case presenting with hepatic dysfunction. ; Pediatr Neurol ; 1997 ; 17(4) ; 353-5
Brown ; GK ; 986 ; Pyruvate dehydrogenase E1 alpha deficiency. [Review] ; Journal of Inherited Metabolic Disease ; 1992 ; 15(4) ; 625-33
Brown ; GK ; 2427* ; Pyruvate dehydrogenase deficiency. [Review] ; Journal of Medical Genetics ; 1994 ; 31(11) ; 875-9
Brown ; RM ; 2433* ; Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency. ; Prenatal Diagnosis ; 1994 ; 14(6) ; 435-41
Brown ; GK ; 2668 ; "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis ; European Journal of Pediatrics ; 1988 ; 147 ; 10-4
Campos ; Y ; 5749 ; Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. ; Neurology ; 1997 ; 49(2) ; 595-7
Caruso ; U ; 3272 ; Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 143-148
Chabrol ; B ; 2447 ; Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. ; J Child Neurol ; 1994 ; 9(1) ; 52-5
Chalmers ; RM ; 5766 ; A mitochondrial DNA tRNA(Val) point mutation associated with adult- onset Leigh syndrome. ; Neurology ; 1997 ; 49(2) ; 589-92
Chariot ; P ; 678* ; Determination of the blood lactate:pyruvate ratio as a noninvasive test for the diagnosis of zidovudine myopathy. ; Arthritis & Rheumatism ; 1994 ; 37(4) ; 583-6
Chretien ; D ; 3297* ; An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle. ; Clin Chim Acta ; 1995 ; 240(2) ; 129-136
Chun ; K ; 2478 ; Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. ; Human Molecular Genetics ; 1993 ; 2(4) ; 449-54
Chun ; K ; 2540 ; Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene. ; American Journal of Human Genetics ; 1991 ; 49(2) ; 414-20
Chun ; K ; 2419* ; Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex [see comments]. ; American Journal of Human Genetics ; 1995 ; 56(3) ; 558-69
Coker ; SB ; 2410 ; Connatal Leigh disease. ; Clinical Pediatrics ; 1995 ; 34(7) ; 349-52
Craigen ; WJ ; 3321 ; Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. ; Pediatric Neurology ; 1996 ; 14(1) ; 69-71
Cross ; JH ; 2438* ; Clinical diversity of pyruvate dehydrogenase deficiency. ; Pediatric Neurology ; 1994 ; 10(4) ; 276-83
Dahl ; HH ; 2531 ; Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. ; Human Mutation ; 1994 ; 3(2) ; 152-5
Dahl ; HH ; 2509 ; Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene. ; Human Genetics ; 1991 ; 87(1) ; 49-53
Dahl ; HH ; 2492 ; X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. ; Journal of Inherited Metabolic Disease ; 1992 ; 15(6) ; 835-47
Dahl ; HH ; 2490 ; Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. [Review] ; Human Mutation ; 1992 ; 1(2) ; 97-102
Dahl ; HH ; 2420* ; Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again [editorial; comment]. [Review] ; American Journal of Human Genetics ; 1995 ; 56(3) ; 553-7
De Meirleir ; L ; 5810 ; Pyruvate dehydrogenase complex deficiency and absence of subunit X. ; J Inherit Metab Dis ; 1998 ; 21(1) ; 9-16
de Meirleir ; LJ ; 1010 ; Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit. ; Journal of Inherited Metabolic Disease ; 1991 ; 14(3) ; 301-4
De Meirleir ; L ; 995 ; Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit. ; Human Genetics ; 1992 ; 88(6) ; 649-52
De Meirleir ; L ; 487 ; Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy. ; Pediatr Res ; 1994 ; 36(6) ; 707-12
De Meirleir ; L ; 2532 ; Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. ; Pediatric Neurology ; 1993 ; 9(3) ; 216-20
De Pinieux ; G ; 5811 ; Lipid-lowering drugs and mitochondrial function: effects of HMG-CoA reductase inhibitors on serum ubiquinone and blood lactate/pyruvate ratio. ; Br J Clin Pharmacol ; 1996 ; 42(3) ; 333-7
De Vivo ; DC ; 383* ; Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease) ; Annals of Neurology ; 1979 ; 6 ; 483-94
Degoul ; F ; 5814 ; A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues. ; J Inherit Metab Dis ; 1997 ; 20(1) ; 49-53
Dengler ; R ; 3353* ; Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia. ; Muscle & Nerve ; 1996 ; 19(4) ; 456-462
DiMauro ; S ; 3357* ; Genetic heterogeneity in Leigh syndrome ; Ann Neurol ; 1996 ; 40(1) ; 5-7
Dionisi-Vici ; C ; 5823 ; Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. ; J Inherit Metab Dis ; 1998 ; 21(1) ; 2-8
Eiris ; J ; 3384 ; Pyruvate dehydrogenase deficiency and cerebral malformations ; Rev Neurol ; 1996 ; 24(134) ; 1272-1275
Elia ; M ; 3385 ; Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua. ; Brain Dev ; 1996 ; 18(3) ; 207-211
Endo ; H ; 2537 ; A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency. ; Journal of Inherited Metabolic Disease ; 1991 ; 14(5) ; 793-9
Evans ; OB ; 384* ; Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy ; Arch Neurol ; 1981 ; 38 ; 515-9
Farmer ; T.W. ; 549 ; Pyruvate decarboxylase deficiency in a patient with subacute necrotizing encephalomyelopathy ; Neurology (Minneap) ; 1973 ; 23 ; 429
Federico ; A ; 376* ; Congenital lactic acidosis due to a defect of pyruvated dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy ; Eur Neurol ; 1990 ; 30(3) ; 123-7
Feriani ; M ; 5845 ; Buffers: bicarbonate, lactate and pyruvate. ; Kidney Int Suppl ; 1996 ; 56 ; S75-80
Ferlin ; T ; 5846 ; Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. ; J Pediatr ; 1997 ; 131(3) ; 447-9
Fromenty ; B ; 5866 ; High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. ; Am J Med Genet ; 1997 ; 71(4) ; 443-52
Fujii ; T ; 3430 ; Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency. ; Pediatric Neurology ; 1996 ; 14(4) ; 328-334
Fujii ; T ; 2442* ; Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity. ; Annals of Neurology ; 1994 ; 36(1) ; 83-9
Fujii ; T ; 1073* ; 123I-IMP SPECT findings in mitochondrial encephalomyopathies. ; Brain Dev ; 1995 ; 17(2) ; 89-94
Garcia-Silva ; MT ; 5874 ; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. ; Pediatr Neurol ; 1997 ; 17(2) ; 165-70
Garganta ; CL ; 3440* ; A colorimetric assay of lipoyl-N-epsilon-lysine hydrolysis activity using 2,6-dibromoquinone-4-chlorimide. ; Anal Biochem ; 1996 ; 240(2) ; 177-184
Geoffroy ; V ; 3446* ; Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia. ; Pediatrics ; 1996 ; 97(2) ; 267-272
Gilbert ; EF ; 385* ; Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency ; Archives of Pathology and Laboratory Medicine ; 1983 ; 197 ; 162-6
Gore ; DC ; 5884 ; Lactic acidosis during sepsis is related to increased pyruvate production, not deficits in tissue oxygen availability [see comments] ; Ann Surg ; 1996 ; 224(1) ; 97-102
Gore ; DC ; 3463* ; Lactic acidosis during sepsis is related to increased pyruvate production, not deficits in tissue oxygen availability. ; Ann Surg ; 1996 ; 224(1) ; 97-102
Hamilton ; J ; 5904 ; A case of benign pyruvate carboxylase deficiency with normal development. ; J Inherit Metab Dis ; 1997 ; 20(3) ; 401-3
Hansen ; LL ; 2539 ; Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. ; Journal of Inherited Metabolic Disease ; 1991 ; 14(2) ; 140-51
Hansen ; LL ; 3501* ; Sensitive and fast mutation detection by solid phase chemical cleavage. ; Human Mutation ; 1996 ; 7(3) ; 256-263
Hansen ; LL ; 2421* ; Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. ; Human Molecular Genetics ; 1994 ; 3(6) ; 1021-2
Hansen ; LL ; 2475 ; Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit. ; Human Molecular Genetics ; 1993 ; 2(6) ; 805-7
Hansikova ; H ; 2455 ; Deficiency of pyruvate dehydrogenase complex in tissues of an eight month old infant. ; Biochemistry & Molecular Biology International ; 1993 ; 31(6) ; 1157-66
Harada ; M ; 3504* ; Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy. ; Magn Reson Imaging ; 1996 ; 14(1) ; 129-133
Heinonen ; OJ ; 3511* ; Carnitine and physical exercise. ; Sports Med ; 1996 ; 22(2) ; 109-132
Hemalatha ; SG ; 2416* ; Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. ; Human Molecular Genetics ; 1995 ; 4(2) ; 315-8
Higgins ; JJ ; 2430 ; MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency. ; J Child Neurol ; 1994 ; 9(4) ; 436-9
Higgins ; JJ ; 5918 ; Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency. ; Clin Biochem ; 1997 ; 30(1) ; 79-81
Hillman ; JD ; 3519 ; Genetic and physiological analysis of the lethal effect of L-(+)- lactate dehydrogenase deficiency in Streptococcus mutans: complementation by alcohol dehydrogenase from Zymomonas mobilis ; Infect Immun ; 1996 ; 64(10) ; 4319-4323
Holme ; E ; 1088* ; Inheritance and expression of mitochondrial DNA point mutations. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 249-52
Hong ; YS ; 3530 ; Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency ; Human Molecular Genetics ; 1996 ; 5(12) ; 1925-1930
Hoon Jr ; AH ; 5928 ; Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. ; J Pediatr ; 1997 ; 131(2) ; 240-5
Howell ; N ; 3541* ; Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. ; Neurology ; 1996 ; 46(1) ; 219-222
Huang ; WY ; 3548 ; Leigh syndrome presenting with dystonia: report of one case. ; Acta Paediatr Sin ; 1995 ; 36(5) ; 378-381
Huang ; MY ; 3547 ; Mitochondrial NADH-coenzyme Q reductase deficiency in Leigh's disease. ; J Formos Med Assoc ; 1996 ; 95(4) ; 325-328
Huh ; T L ; 372 ; Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast ; J of Biological Chemistry (AJR) ; 1990 ; 256(22) ; 13320-6
Hunt ; TK ; 5932 ; Excess pyruvate and lactate production occurs in sepsis and is not caused by anaerobic glycolysis [letter; comment] ; Ann Surg ; 1997 ; 226(1) ; 108-9
Huq ; AH ; 2523 ; Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia. ; Pediatric Research ; 1991 ; 30(1) ; 11-4
Ito ; M ; 2534 ; Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. ; Journal of Inherited Metabolic Disease ; 1992 ; 15(6) ; 848-56
Ito ; M ; 965 ; Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia. ; Clinica Chimica Acta ; 1992 ; 209(1-2) ; 1-7
Kerr ; DS ; 5662 ; Defects of the human pyruvate dehydrogenase complex ; in Alpha Keto Acid Dehydrogenase Complexes, ed: Patel, et al. ; 1996 ; ; 249-69
Kimura ; S ; 5983 ; Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy. ; Brain Dev ; 1997 ; 19(8) ; 535-40
Kinoshita ; H ; 5984 ; Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency. ; J Child Neurol ; 1997 ; 12(2) ; 141-4
Kretzschmar ; Hans A. ; 263* ; Pyruvate Dehydrogenase Complex Deficiency as a Cause of Subacute Necrotizing Encephalopathy (Leigh Disease) ; Pediatrics ; 1987 ; 79(3) ; 370-3
Kuptamethi ; S ; 2500 ; Erythrocyte glucose-6-phosphate dehydrogenase and pyruvate kinase activities in hemoglobin H disease. ; Southeast Asian Journal of Tropical Medicine & Public Health ; 1992 ; 23(1) ; 64-70
Kuroda ; Y ; 1018 ; Screening for disorders of pyruvate metabolism by measuring the ratio of the rates of lactate production and pyruvate decarboxylation in cultured skin fibroblasts. ; Clinica Chimica Acta ; 1991 ; 199(1) ; 17-22
Land ; JM ; 1611* ; Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy. ; Neuromuscular Disorders ; 1995 ; 5(2) ; 129-37
Lavoie ; J ; 3682 ; Reduced activities of thiamine-dependent enzymes in brains of alcoholics in the absence of Wernicke's encephalopathy. ; Alcohol Clin Exp Res ; 1995 ; 19(4) ; 1073-1077
Lee ; N ; 6014 ; Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc. ; Biochim Biophys Acta ; 1998 ; 1406(1) ; 1-4
Lincke ; CR ; 3705 ; Cerebellar hypoplasia in respiratory chain dysfunction ; Neuropediatrics ; 1996 ; 27(4) ; 216-218
Ling ; M ; 6024 ; Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. ; Hum Mol Genet ; 1998 ; 7(3) ; 501-5
Lissens ; W ; 2417* ; Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene. ; Human Molecular Genetics ; 1995 ; 4(2) ; 307-8
Lissens ; W ; 3708* ; Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. ; Human Mutation ; 1996 ; 7(1) ; 46-51
MacDonald ; MJ ; 2835* ; Normalization by insulin treatment of low mitochondrial glycerol phosphate dehydrogenase and pyruvate carboxylase in pancreatic islets of the GK rat. ; Diabetes ; 1996 ; 45(7) ; 886-90
Mak ; SC ; 6039 ; Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers. ; Pediatr Neurol ; 1996 ; 15(1) ; 72-5
Maleux ; G ; 6040 ; Quiz case of the month. Subacute necrotizing mitochondrial encephalopathy (Leigh disease). ; Eur Radiol ; 1997 ; 7(9) ; 1505-6
Marin-Garcia ; J ; 3755* ; Cardiac mitochondrial dysfunction in Leigh syndrome. ; Pediatr Cardiol ; 1996 ; 17(6) ; 387-389
Marsac ; C ; 6050 ; Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. ; Hum Genet ; 1997 ; 99(6) ; 785-92
Marsac ; C ; 2464* ; Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy. ; Journal of Pediatrics ; 1993 ; 123(6) ; 915-20
Matsuishi ; T ; 3774* ; Elevated cerebrospinal fluid lactate/pyruvate ratio in Machado-Joseph disease. ; Acta Neurol Scand ; 1996 ; 93(1) ; 72-75
Matthews ; PM ; 930* ; Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene. ; Neurology ; 1993 ; 43(10) ; 2025-30
Matthews ; PM ; 2441* ; Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. ; Brain ; 1994 ; 117 ( Pt 3) ; 435-43
McCormick ; K ; 387* ; Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: response to dichloroacetate and benzoate ; Am J Med Genet ; 1985 ; 22 ; 291-9
Meirleir ; L.J. ; 412* ; Pyruvate Dehydrogenase Deficiency due to a Mutation of the E1 alpha Subunit ; J Inherit Metab Dis ; 1991 ; 14 ; 301-4
Michotte ; A ; 951* ; Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis. ; Acta Neuropathologica ; 1993 ; 85(6) ; 674-8
Morris ; AA ; 3819* ; Deficiency of respiratory chain complex I is a common cause of Leigh disease. ; Ann Neurol ; 1996 ; 40(1) ; 25-30
Munaro ; M ; 6107 ; A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. ; Hum Mol Genet ; 1997 ; 6(2) ; 221-8
Munujos ; P ; 3841 ; Brain pyruvate oxidation in experimental thiamin-deficiency encephalopathy ; Clin Chim Acta ; 1996 ; 255(1) ; 13-25
Mytilineou ; C ; 2862* ; Impaired oxidative decarboxylation of pyruvate in fibroblasts from patients with Parkinson's disease. ; J Neural Transm Park Dis Dement Sect ; 1994 ; 8(3) ; 223-8
Naito ; E ; 6113 ; Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. ; J Inherit Metab Dis ; 1997 ; 20(4) ; 539-48
Naito ; E ; 908* ; Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. ; Pediatric Research ; 1994 ; 36(3) ; 340-6
Naito ; E ; 2530* ; Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene. ; Human Molecular Genetics ; 1994 ; 3(7) ; 1193-4
Naito ; E ; 3849 ; Defects of pyruvate metabolism in cultured lymphoblastoid cells of 20 patients with Leigh syndrome ; No To Hattatsu ; 1996 ; 28(6) ; 495-500
Narisawa ; K ; 2491 ; Thiamine responsive pyruvate dehydrogenase deficiency. ; Journal of Nutritional Science & Vitaminology ; 1992 ; Spec No ; 585-8
Nyhan ; ; 2669 ; Lactic Acidemia--Deficiency of the Pyruvate Dehydrogenase Complex. ; Nyhan textbook, Chap 38 ; ; ; 221-37
Oki ; J ; 3895* ; Serial neuroimages of acute necrotizing encephalopathy associated with human herpesvirus 6 infection. ; Brain Dev ; 1995 ; 17(5) ; 356-359
Otero ; LJ ; 3908* ; Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females. ; Pediatric Neurology ; 1995 ; 13(4) ; 327-332
Padua ; RA ; 6145 ; Reduced Ca2+ uptake by mitochondria in pyruvate dehydrogenase-deficient human diploid fibroblasts. ; Am J Physiol ; 1998 ; 274(3 Pt 1) ; C615-22
Pastoris ; O ; 3927* ; Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment. ; Acta Paediatr ; 1996 ; 85(5) ; 625-628
Patel ; MS ; 3928 ; Gene regulation and genetic defects in the pyruvate dehydrogenase complex. [Review] ; J Nutr ; 1995 ; 125(6) ; 1753S-1757S
Patel ; MS ; 3929 ; Mammalian alpha-keto acid dehydrogenase complexes: gene regulation and genetic defects. ; FASEB J ; 1995 ; 9(12) ; 1164-1172
Pena ; JA ; 3939 ; Leigh's encephalopathy (subacute necrotizing encephalopathy). Documentation of its evolution through neuroimaging ; Invest Clin ; 1996 ; 37(3) ; 183-189
Pineda ; M ; 3946* ; An atypical French form of pyruvate carboxylase deficiency. ; Brain Dev ; 1995 ; 17(4) ; 276-279
Pitkanen ; S ; 3947 ; Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. ; J Clinical Investigation ; 1996 ; 98(2) ; 345-351
Poggi-Travert ; F ; 3950 ; Metabolic intermediates in lactic acidosis: compounds, samples and interpretation ; J Inherit Metab Dis ; 1996 ; 19(4) ; 478-488
Poulton ; KR ; 6171 ; Muscle pyruvate kinase deficiency: glycogen storage disease or mitochondrial myopathy? ; Funct Neurol ; 1997 ; 12(1) ; 25-32
Rahman ; S ; 2911* ; Leigh syndrome: clinical features and biochemical and DNA abnormalities. ; Ann Neurol ; 1996 ; 39(3) ; 343-351
Robinson ; BH ; 5660 ; Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase) ; The Metabolic Basis of Inherited Desease, 7th edition, Chapter 46 ; 1995 ; ; 1479-1500
Robinson ; BH ; 388* ; Variable clinical presentaion in patients with deficiency of the pyruvate dehydrogenase complex: a review of 30 cases with a defect in the E1 [pyruvate decarboxylase] component of the complex ; J Pediatr ; 1987 ; 111(4) ; 525-33
Robinson ; BH ; 3995 ; Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex ; J Inherit Metab Dis ; 1996 ; 19(4) ; 452-462
Sacks ; W ; 2527 ; Inhibition of pyruvate dehydrogenase complex (PDHC) by antipsychotic drugs. ; Biological Psychiatry ; 1991 ; 29(2) ; 176-82
Saijo ; H ; 6200 ; Pyruvate dehydrogenase complex deficiency with multiple minor anomalies. ; Acta Paediatr Jpn ; 1997 ; 39(2) ; 230-2
Santorelli ; FM ; 4026* ; Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. ; Neurology ; 1996 ; 47(5) ; 1320-1323
Santorelli ; FM ; 4025 ; Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. ; Pediatr Res ; 1996 ; 39(5) ; 914-917
Savoiardo ; M ; 4035* ; Symmetric lesions of the subthalamic nuclei in mitochondrial encephalopathies: an almost distinctive Mark of Leigh disease with COX deficiency ; AJNR Am J Neuroradiol ; 1995 ; 16(8) ; 1746-1747
Scholte ; HR ; 982 ; Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis. ; J Inherit Metab Dis ; 1992 ; 15(3) ; 331-4
Seller ; A ; 6225 ; Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA. ; J Inherit Metab Dis ; 1997 ; 20(1) ; 102-3
Shenkman ; Z ; 6234 ; Anaesthetic management of a patient with Leigh's syndrome. ; Can J Anaesth ; 1997 ; 44(10) ; 1091-5
Shevell ; MI ; 903* ; Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. ; Pediatric Neurology ; 1994 ; 11(3) ; 224-9
Shimizu ; T ; 4077 ; Pyruvate ; Nippon Rinsho ; 1995 ; 53 SU ; 586-589
Shoffner ; JM ; 4083* ; Maternal inheritance and the evaluation of oxidative phosphorylation diseases. ; Lancet ; 1996 ; 348(9037) ; 1283-1288
Sperl ; W ; 818 ; Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies. ; European Journal of Pediatrics ; 1992 ; 151(3) ; 192-5
Spranger ; M ; 4113 ; Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency ; Nervenarzt ; 1995 ; 66(2) ; 144-149
Stacpoole ; PW ; 6269 ; Treatment of congenital lactic acidosis with dichloroacetate. ; Arch Dis Child ; 1997 ; 77(6) ; 535-41
Stern ; HJ ; 892* ; Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. ; Clinical Biochemistry ; 1995 ; 28(1) ; 85-9
Sugden ; MC ; 4128 ; Regulation of hepatic pyruvate dehydrogenase kinase by insulin and dietary manipulation in vivo. Studies with the euglycaemic- hyperinsulinaemic clamp. ; Biochim Biophys Acta ; 1996 ; 1316(2) ; 114-120
Suormala ; T ; 6284 ; Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. ; Pediatr Res ; 1997 ; 41(5) ; 666-73
Szutowicz ; A ; 4140 ; Disturbances of acetyl-CoA, energy and acetylcholine metabolism in some encephalopathies. ; Acta Neurobiol Exp (Warsz) ; 1996 ; 56(1) ; 323-339
Takahashi ; S ; 6297 ; Autopsy findings in pyruvate dehydrogenase E1alpha deficiency: case report. ; J Child Neurol ; 1997 ; 12(8) ; 519-24
Takahashi ; S ; 6296 ; De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome [letter] ; Am J Hum Genet ; 1998 ; 62(3) ; 717-9
Takakubo ; F ; 2409* ; An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. ; American Journal of Human Genetics ; 1995 ; 57(4) ; 772-80
Takanashi ; J ; 6299 ; Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation. ; J Neurol Sci ; 1997 ; 145(1) ; 83-6
Thyagarajan ; B ; 4175 ; Mammalian mitochondria possess homologous DNA recombination activity. ; J Biol Chem ; 1996 ; 271(44) ; 27536-27543
Tiranti ; V ; 4179 ; Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. ; Human Molecular Genetics ; 1995 ; 4(11) ; 2017-2023
Tomczak ; R ; 4186 ; Newborn infant with cerebral symptoms. Leigh disease ; Radiologe ; 1996 ; 36(7) ; 591-592
Toth ; P.P. ; 311* ; Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate. ; Journal of Pediatrics ; 1993 ; 123(3) ; 427-30
Trijbels ; FJ ; 6327 ; Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 243-7
Tsao ; CY ; 6330 ; Leigh syndrome, cytochrome C oxidase deficiency and hypsarrhythmia with infantile spasms. ; Clin Electroencephalogr ; 1997 ; 28(4) ; 214-7
Tulinius ; MH ; 2411* ; De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. ; Human Genetics ; 1995 ; 96(3) ; 290-4
unknown 10 ; ; 97* ; Pyruvate Carboxylase Deficiency & Leigh's ; Metabolic Disorders ; ; ; 1275-6
unknown 5 ; ; 6* ; Intermediary Metabolism/Oxidation-Reduction Reactions/ATP Generation/Pyruvate & Krebs Cycle ; ; ; ; 28-43
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