{"id":"https://openalex.org/W149229106","doi":null,"title":"Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.","display_name":"Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.","publication_year":2001,"publication_date":"2001-11-01","ids":{"openalex":"https://openalex.org/W149229106","mag":"149229106","pmid":"https://pubmed.ncbi.nlm.nih.gov/11687750"},"language":"en","primary_location":{"id":"pmid:11687750","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11687750","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medical science monitor : international medical journal of experimental and clinical research","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113878037","display_name":"Liliana Cerna","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"L Cerna","raw_affiliation_strings":["Department of Pediatrics, Center for Integrated Genomics, Charles University, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Center for Integrated Genomics, Charles University, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082025066","display_name":"L\u00e1szl\u00f3 Wenchich","orcid":"https://orcid.org/0000-0002-8250-2981","observed_orcids":["https://orcid.org/0000-0002-8250-2981"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Wenchich","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069582545","display_name":"Hana Hans\u00edkov\u00e1","orcid":"https://orcid.org/0000-0002-2734-225X","observed_orcids":["https://orcid.org/0000-0002-2734-225X","https://orcid.org/0000-0002-8962-1975"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H Hansikov\u00e1","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085608539","display_name":"Stanislav Kmoch","orcid":"https://orcid.org/0000-0002-6239-707X","observed_orcids":["https://orcid.org/0000-0002-6239-707X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Kmoch","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"K Peskova","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Peskova","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082614520","display_name":"Petr Chrastina","orcid":"https://orcid.org/0000-0003-4404-6513","observed_orcids":["https://orcid.org/0000-0003-4404-6513"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Chrastina","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028926573","display_name":"Ji\u0159\u00ed Brynda","orcid":"https://orcid.org/0000-0003-3675-6769","observed_orcids":["https://orcid.org/0000-0003-3675-6769"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Brynda","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5033861784","display_name":"J Zeman","orcid":"https://orcid.org/0000-0002-2678-7919","observed_orcids":["https://orcid.org/0000-0002-2678-7919"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Zeman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3223,"has_fulltext":false,"cited_by_count":27,"citation_normalized_percentile":{"value":0.53229974,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"7","issue":"6","first_page":"1319","last_page":"25"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9189000129699707,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9189000129699707,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12915","display_name":"Biochemical Acid Research Studies","score":0.08079999685287476,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.578000009059906},{"id":"https://openalex.org/keywords/fad-binding-site","display_name":"FAD binding site","score":0.9409999847412109},{"id":"https://openalex.org/keywords/protein-destabilization","display_name":"protein destabilization","score":0.7509999871253967},{"id":"https://openalex.org/keywords/branched-chain-amino-acids","display_name":"branched-chain amino acids","score":0.9520000219345093},{"id":"https://openalex.org/keywords/high-fat-low-protein-diet","display_name":"high-fat low-protein diet","score":0.9399999976158142},{"id":"https://openalex.org/keywords/medium-chain-triglycerides","display_name":"medium-chain triglycerides","score":0.8880000114440918},{"id":"https://openalex.org/keywords/dichloroacetate","display_name":"dichloroacetate","score":0.9900000095367432},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.3540000021457672},{"id":"https://openalex.org/keywords/infants","display_name":"infants","score":0.33399999141693115}],"concepts":[{"id":"https://openalex.org/C2780317664","wikidata":"https://www.wikidata.org/wiki/Q1500373","display_name":"Lactic acidosis","level":2,"score":0.7158175706863403},{"id":"https://openalex.org/C120763696","wikidata":"https://www.wikidata.org/wiki/Q419337","display_name":"Dihydrolipoamide dehydrogenase","level":4,"score":0.6408309936523438},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48194169998168945},{"id":"https://openalex.org/C2776016237","wikidata":"https://www.wikidata.org/wiki/Q178430","display_name":"Lysine","level":3,"score":0.44319042563438416},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.4228648841381073},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.420250803232193},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.41562458872795105},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.40491917729377747},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3723048269748688},{"id":"https://openalex.org/C88099638","wikidata":"https://www.wikidata.org/wiki/Q412856","display_name":"Pyruvate dehydrogenase complex","level":3,"score":0.3097001910209656},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1721976399421692},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.13765987753868103}],"mesh":[{"descriptor_ui":"D000140","descriptor_name":"Acidosis, Lactic","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D000140","descriptor_name":"Acidosis, Lactic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008058","descriptor_name":"Dihydrolipoamide Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015153","descriptor_name":"Blotting, Western","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018076","descriptor_name":"DNA, Complementary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:11687750","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11687750","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medical science monitor : international medical journal of experimental and clinical research","raw_type":"Case Reports"},{"id":"mag:149229106","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11687750","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2083486401","https://openalex.org/W4362511013","https://openalex.org/W1143894576","https://openalex.org/W1965116272","https://openalex.org/W1985857137","https://openalex.org/W2049532411","https://openalex.org/W1966225852","https://openalex.org/W2130482901","https://openalex.org/W2113239879","https://openalex.org/W2023335461"],"abstract_inverted_index":{"BACKGROUND:":[0],"Dihydrolipoamide":[1],"dehydrogenase":[2],"(DLD)":[3],"deficiency":[4,255],"is":[5,205,244,256],"a":[6,35,105],"rare":[7],"cause":[8],"of":[9,23,63,74,89,110,133,169,182,192,213,218,225,241,261,277],"primary":[10],"lactic":[11,44],"acidosis":[12,45],"in":[13,34,68,92,101,107,115,131,140,148,156,179,210,223,264],"infancy.":[14],"MATERIAL":[15],"AND":[16],"METHODS:":[17],"This":[18],"article":[19],"presents":[20],"the":[21,108,157,166,170,180,189,214,219,237,242,271,275],"results":[22],"biochemical":[24],"and":[25,28,70,96,127,137,161,198,201,236,274],"molecular":[26],"analyses":[27],"metabolic":[29],"response":[30],"to":[31,79,113,117,207],"treatment":[32],"procedures":[33],"10-week":[36],"old":[37],"boy":[38],"presenting":[39],"with":[40,124,195,253,270],"vomiting,":[41],"progressive":[42],"hypotonia,":[43],"(pH":[46],"7.04;":[47],"BE":[48],"-":[49],"20;":[50],"B-lactate":[51],"6.6":[52],"mmol/l,":[53,58],"controls":[54,59],"<2.1;":[55],"CSF-lactate":[56],"4.8":[57],"<2.0),":[60],"increased":[61,71],"levels":[62],"branched":[64,75],"chain":[65,76],"amino":[66,135],"acids":[67,136,139],"blood,":[69],"urinary":[72],"excretion":[73],"oxo-acids":[77],"due":[78],"DLD":[80,83,111,158,254],"deficiency.":[81],"RESULTS:":[82],"activity":[84],"was":[85,145],"less":[86],"than":[87],"5%":[88],"control":[90],"values":[91],"lymphocytes,":[93],"muscle":[94,102],"mitochondria":[95],"fibroblasts.":[97],"Western":[98],"blot":[99],"analysis":[100],"tissue":[103],"showed":[104],"decrease":[106],"quantity":[109],"protein":[112,243],"40%":[114],"comparison":[116],"control.":[118],"A":[119],"high-fat,":[120],"low-protein":[121],"diet":[122,273],"supplemented":[123],"MCT":[125],"oils":[126],"sodium":[128,278],"dichloroacetate":[129],"resulted":[130],"normalization":[132,260],"lactate,":[134],"organic":[138],"body":[141,265],"fluids,":[142],"but":[143],"there":[144],"no":[146,230],"improvement":[147],"psychomotor":[149],"development.":[150],"Novel":[151],"heterozygous":[152],"mutations":[153,164],"were":[154],"found":[155],"gene:":[159],"A1081G":[160,220],"G1123A.":[162],"Both":[163],"affect":[165],"same":[167],"region":[168],"binding":[171],"site":[172],"for":[173,239,251],"FAD.":[174],"The":[175,249],"G1123A":[176],"mutation,":[177,221],"resulting":[178,222],"substitution":[181,224],"Glu":[183],"375":[184],">":[185,228],"Lys,":[186],"breaks":[187],"down":[188],"possible":[190],"interaction":[191],"glutamic":[193],"acid":[194],"neighboring":[196],"lysine":[197],"causes":[199],"electrostatic":[200],"steric":[202],"repulsion,":[203],"which":[204],"likely":[206],"destabilize":[208],"structure":[209],"this":[211],"part":[212],"protein.":[215],"In":[216],"case":[217],"Met":[226],"361":[227],"Val,":[229],"important":[231],"intermolecular":[232],"interactions":[233],"are":[234],"broken":[235],"reason":[238],"destabilization":[240],"not":[245],"as":[246],"clear.":[247],"CONCLUSIONS:":[248],"prognosis":[250],"children":[252],"unfavorable,":[257],"although":[258],"long-term":[259],"most":[262],"metabolites":[263],"fluids":[266],"may":[267],"be":[268],"achieved":[269],"proper":[272],"administration":[276],"dichloroacetate.":[279]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
