{"id":"https://openalex.org/W1504537571","doi":"https://doi.org/10.1542/peds.91.3.664","title":"Partial Methylcrotonyl-Coenzyme A Carboxylase Deficiency in an Infant With Failure to Thrive, Gastrointestinal Dysfunction, and Hypertonia","display_name":"Partial Methylcrotonyl-Coenzyme A Carboxylase Deficiency in an Infant With Failure to Thrive, Gastrointestinal Dysfunction, and Hypertonia","publication_year":1993,"publication_date":"1993-03-01","ids":{"openalex":"https://openalex.org/W1504537571","doi":"https://doi.org/10.1542/peds.91.3.664","mag":"1504537571","pmid":"https://pubmed.ncbi.nlm.nih.gov/8441580"},"language":"en","primary_location":{"id":"doi:10.1542/peds.91.3.664","doi":"https://doi.org/10.1542/peds.91.3.664","is_oa":false,"landing_page_url":"https://doi.org/10.1542/peds.91.3.664","pdf_url":null,"source":{"id":"https://openalex.org/S77494981","display_name":"PEDIATRICS","issn_l":"0031-4005","issn":["0031-4005","1098-4275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315734","host_organization_name":"American Academy of Pediatrics","host_organization_lineage":["https://openalex.org/P4310315734"],"host_organization_lineage_names":["American Academy of Pediatrics"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","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/A5112018210","display_name":"Mendel Tuchman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"MENDEL TUCHMAN","raw_affiliation_strings":["Dept. of Pediatrics, University of Minnesota, Minneapolis 55455"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Pediatrics, University of Minnesota, Minneapolis 55455","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000261070","display_name":"Susan A. Berry","orcid":"https://orcid.org/0000-0001-7970-688X","observed_orcids":["https://orcid.org/0000-0001-7970-688X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"SUSAN A. BERRY","raw_affiliation_strings":["Pediatric Genetics & Metabolism"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genetics & Metabolism","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113543314","display_name":"Le Phuc Thuy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"LE PHUC THUY","raw_affiliation_strings":["University of Minnesota Twin Cities"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Minnesota Twin Cities","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110191492","display_name":"William L. Nyhan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"WILLIAM L. NYHAN","raw_affiliation_strings":["University of Minnesota Twin Cities"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Minnesota Twin Cities","institution_ids":["https://openalex.org/I130238516"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.9262,"has_fulltext":false,"cited_by_count":26,"citation_normalized_percentile":{"value":0.66607302,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"91","issue":"3","first_page":"664","last_page":"666"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":1.0,"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":1.0,"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0,"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/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/3-hydroxyisovaleric-acid","display_name":"3-hydroxyisovaleric acid","score":0.890999972820282},{"id":"https://openalex.org/keywords/organic-aciduria","display_name":"organic aciduria","score":0.7710000276565552},{"id":"https://openalex.org/keywords/failure-to-thrive","display_name":"failure to thrive","score":0.9070000052452087},{"id":"https://openalex.org/keywords/gastrointestinal-dysfunction","display_name":"gastrointestinal dysfunction","score":0.8259999752044678},{"id":"https://openalex.org/keywords/hypertonia","display_name":"hypertonia","score":0.9459999799728394},{"id":"https://openalex.org/keywords/leucine-degradation","display_name":"leucine degradation","score":0.8209999799728394},{"id":"https://openalex.org/keywords/biotin-dependent-carboxylases","display_name":"biotin-dependent carboxylases","score":0.7260000109672546}],"concepts":[{"id":"https://openalex.org/C2776917539","wikidata":"https://www.wikidata.org/wiki/Q1497481","display_name":"Failure to thrive","level":2,"score":0.9051564931869507},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8349825143814087},{"id":"https://openalex.org/C2779248504","wikidata":"https://www.wikidata.org/wiki/Q574942","display_name":"Hypertonia","level":2,"score":0.6988029479980469},{"id":"https://openalex.org/C2778204606","wikidata":"https://www.wikidata.org/wiki/Q181354","display_name":"Biotin","level":2,"score":0.552104651927948},{"id":"https://openalex.org/C140137476","wikidata":"https://www.wikidata.org/wiki/Q21114968","display_name":"Pyruvate carboxylase","level":3,"score":0.5151252150535583},{"id":"https://openalex.org/C2779646400","wikidata":"https://www.wikidata.org/wiki/Q1758393","display_name":"Inborn error of metabolism","level":2,"score":0.43540748953819275},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.41878652572631836},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.394094854593277},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.32412612438201904},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2513401508331299},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10803335905075073},{"id":"https://openalex.org/C42219234","wikidata":"https://www.wikidata.org/wiki/Q131130","display_name":"Anesthesia","level":1,"score":0.09636831283569336}],"mesh":[{"descriptor_ui":"D001710","descriptor_name":"Biotin","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D005183","descriptor_name":"Failure to Thrive","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D005767","descriptor_name":"Gastrointestinal Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D005998","descriptor_name":"Glycine","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":false},{"descriptor_ui":"D005998","descriptor_name":"Glycine","qualifier_ui":"Q000652","qualifier_name":"urine","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":"D008025","descriptor_name":"Ligases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"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":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D009122","descriptor_name":"Muscle Hypertonia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D014631","descriptor_name":"Valerates","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D019735","descriptor_name":"Carbon-Carbon Ligases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1542/peds.91.3.664","doi":"https://doi.org/10.1542/peds.91.3.664","is_oa":false,"landing_page_url":"https://doi.org/10.1542/peds.91.3.664","pdf_url":null,"source":{"id":"https://openalex.org/S77494981","display_name":"PEDIATRICS","issn_l":"0031-4005","issn":["0031-4005","1098-4275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315734","host_organization_name":"American Academy of Pediatrics","host_organization_lineage":["https://openalex.org/P4310315734"],"host_organization_lineage_names":["American Academy of Pediatrics"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics","raw_type":"journal-article"},{"id":"pmid:8441580","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8441580","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":"Pediatrics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G483387226","display_name":null,"funder_award_id":"MCJ 004007","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"}],"funders":[{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2023903713","https://openalex.org/W2103341079","https://openalex.org/W2055575414","https://openalex.org/W128896253","https://openalex.org/W2089219623","https://openalex.org/W2070784915","https://openalex.org/W2068402208","https://openalex.org/W2060713433","https://openalex.org/W3037014161","https://openalex.org/W2037713756"],"abstract_inverted_index":{"Analysis":[0],"of":[1,49,58,98,116],"urinary":[2],"organic":[3,47],"acids":[4],"will":[5],"occasionally":[6],"detect":[7],"an":[8,13,26,94],"unexpected":[9],"metabolic":[10],"abnormality":[11],"reflecting":[12],"enzyme":[14],"deficiency":[15,79,97],"in":[16,66,88],"a":[17,20,45,112],"child":[18],"with":[19,28,62],"nonspecific":[21],"phenotype.":[22],"We":[23],"recently":[24],"found":[25],"infant":[27],"failure":[29],"to":[30,43,55,83],"thrive,":[31],"gastroesophageal":[32],"reflux":[33],"and":[34,39,51,80],"vomiting,":[35],"diarrhea,":[36],"oral":[37],"candidiasis":[38],"lower":[40],"extremity":[41],"hypertonia":[42],"have":[44,64],"mild":[46],"aciduria":[48],"methylcrotonylglycine":[50],"3-hydroxyisovaleric":[52],"acid":[53],"unresponsive":[54],"pharmacological":[56],"doses":[57],"biotin.":[59],"Most":[60],"patients":[61],"methylcrotonylglycinuria":[63],"defects":[65],"biotin":[67,84,110],"metabolism":[68],"affecting":[69],"biotin-dependent":[70],"carboxylase":[71,102],"enzymes":[72],"such":[73],"as":[74],"holocarboxylase":[75],"synthase":[76],"or":[77],"biotinidase":[78],"are":[81],"responsive":[82],"administration.1":[85],"Enzymatic":[86],"investigations":[87],"the":[89],"patient":[90],"described":[91],"below":[92],"revealed":[93],"isolated":[95],"partial":[96],"3-methylcrotonyl-coenzyme":[99],"A":[100],"(CoA)":[101],"(MCC)":[103],"(EC":[104],"6.4.1.4)":[105],"(McKusick":[106],"21020)":[107],"which":[108],"is":[109],"resistant,":[111],"very":[113],"rare":[114],"disorder":[115],"leucine":[117],"degradation.":[118]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
