Pyruvate dehydrogenase deficiency - Wikipedia
PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). The ... Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare ... a cofactor required by the pyruvate dehydrogenase complex. Pyruvate dehydrogenase deficiency can be diagnosed via the following ... "Human defects of the pyruvate dehydrogenase complex", Alpha-Keto Acid Dehydrogenase Complexes, MCBU Molecular and Cell Biology ...
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study |...
... pyruvate dehydrogenase complex deficiency, stroke-like lesions. in Journal of Inherited Metabolic Disease. volume. 45. issue. 2 ... Journal of Inherited Metabolic Disease}}, title = {{Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency- ... Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study. * ... The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc) deficiency continues to pose challenges ...
Treatment of congenital lactic acidosis with dichloroacetate | Archives of Disease in Childhood
1988) Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex. J Inherit Metab Dis 11:207 ... 1996) Defects of the human pyruvate dehydrogenase complex. in Alpha keto acid dehydrogenase complexes. eds Patel MS, Roche T, ... The pyruvate dehydrogenase (PDH) multienzyme complex (PDC). Pyruvate is decarboxylated by the PDH subunit (E1) in the presence ... 1988) A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. Pediatr Res 24:95-100. ...
Pyruvate dehydrogenase deficiency: MedlinePlus Genetics
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of ... Pyruvate dehydrogenase phosphatase deficiency Genetic and Rare Diseases Information Center. *Pyruvate dehydrogenase complex ... Genetic Testing Registry: Pyruvate dehydrogenase complex deficiency *Genetic Testing Registry: Pyruvate dehydrogenase E1-alpha ... Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. Mutations in the ...
Events Calendar | UMDF
... co-hosted by the United Mitochondrial Disease Foundation and MitoAction, focused on Pyruvate Dehydrogenase Complex Deficiency ( ... UMDF/MitoAction - Voice of the Pyruvate Dehydrogenase Complex Deficiency (PDCD) FDA Listening Session September 8 @ 1:00 pm - 2 ... UMDF/MitoAction - Voice of the Pyruvate Dehydrogenase Complex Deficiency (PDCD) FDA Listening Session The U.S. Food and Drug ... UMDF/MitoAction - Voice of the Pyruvate Dehydrogenase Complex Deficiency (PDCD) FDA Listening Session ...
Pyruvate dehydrogenase phosphatase deficiency - Global Genes
... development of life-saving treatment for patients with pyruvate dehydrogenase complex deficiency and related genetic diseases. ... Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD see this term) ... Pyruvate dehydrogenase phosphatase deficiency. Synonyms: PDH phosphatase deficiency. ... Pyruvate dehydrogenase phosphatase deficiency?. Our RARE Concierge Services Guides are available to assist you by providing ...
Department of Biochemistry - Research output - Keio University
Pyruvate Dehydrogenase Complex Deficiency Disease 100% * Ketogenic Diet 82% * Citric Acid Cycle 73% ... Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency. Ogawa, E., Hishiki, T., Hayakawa, N., ... The differential diagnosis of IgG4-related disease based on machine learning. Yamamoto, M., Nojima, M., Kamekura, R., Kuribara- ... Investigating the Crime Scene-Molecular Signatures in Inflammatory Bowel Disease. Andersen, V., Bennike, T. B., Bang, C., Rioux ...
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
DeCS - Changed terms
Emily Margaret Place, M.S. | Harvard Catalyst Profiles | Harvard Catalyst
Pesquisa | Portal Regional da BVS
Deficiency of the pyruvate dehydrogenase complex E1-alpha subunit is a rare genetic disease with X-linked dominant inheritance ... BACKGROUND: Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal ... Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as ... Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as ...
Specific PHGKB|Rare Diseases PHGKB|PHGKB
Pyruvate dehydrogenase complex deficiency From NCATS Genetic and Rare Diseases Information Center ... Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese ... Selected Rare Diseases. Browse full list of rare diseases A-Z *Alpha-1 Antitrypsin Deficiency ... Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it ...
MeSH Browser
deficiency:Pyruvate Dehydrogenase Complex Deficiency Disease Allowable Qualifiers. * administration & dosage (AD) * adverse ... deficiency:Pyruvate Dehydrogenase Complex Deficiency Disease Date Established. 1974/01/01. Date of Entry. 1999/01/01. Revision ... Proteasome Endopeptidase Complex [D05.500.562.500] * Pyruvate Dehydrogenase Complex [D05.500.562.625] * Dihydrolipoamide ... Proteasome Endopeptidase Complex [D08.811.600.730] * Pyruvate Dehydrogenase Complex [D08.811.600.741] * Dihydrolipoamide ...
QIN SUN | Profiles RNS
Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189. PMID: ... A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 10; 20(10):1274-1283. PMID ... Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; ... Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase ( ...
New spastic paraplegia phenotype associated to mutation of NFU1 | Orphanet Journal of Rare Diseases | Full Text
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel ... mainly complex II) were low in muscle and fibroblasts as well as the pyruvate dehydrogenase complex and the α-ketoglutarate ... These data suggest a PDH deficiency more than an oxidative phosphorylation deficiency [1-4]. For this reason we suggest the ... sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase ...
Mitochondrial Diseases (medical concept explorer)
Strokes in mitochondrial diseases | Pizova | Neurology, Neuropsychiatry, Psychosomatics
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre. MELAS overlap ... Keywords Alzheimers disease COVID-19 Parkinsons disease antidepressants anxiety cognitive impairment cognitive impairments ... Is the mitochondrial complex I ND5 gene a hotspot for MELAS causing mutations? Ann Neurol 2003;53:128-32.,/p,,p,Naini A.B., Lu ... Mitochondrial disease and stroke. Stroke 2001;32:2507-10.,/p,,p,Pavlakis S.G., Phillips P.C., DiMauro S. et al. Mitochondrial ...
Nieman-Pick Disease Type C1 Treatment with Trappsol® Cyclo™ | UPMC
Learn more about the Nieman-Pick Disease Type C1 Treatment with Trappsol® Cyclo™ - Phase III study at UPMC Children's ... Pyruvate Dehydrogenase Complex Deficiency Treatment With Dichloroacetate - Phase III. Nieman-Pick Disease Type C1 Treatment ... Fabry Disease Treatment with ST-920 Gene Therapy - Phase I/II. *Fabry Disease Treatment Using 4D-310 Gene Therapy - Phase I/II ... Nieman-Pick Disease Type C Treatment with Arimoclomol. *Nieman-Pick Disease Type C1 Treatment with Trappsol® Cyclo™ - Phase III ...