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Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia

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dc.contributor Landspitali - The National University Hospital of Iceland
dc.contributor.author Agnarsdóttir, Dagbjört
dc.contributor.author Sigurjónsdóttir, Vaka Kristín
dc.contributor.author Emilsdóttir, Arna Rut
dc.contributor.author Petersen, Erna
dc.contributor.author Sigfússon, Gunnlaugur
dc.contributor.author Rögnvaldsson, Ingólfur
dc.contributor.author Franzson, Leifur
dc.contributor.author Vernon, Hilary
dc.contributor.author Bjornsson, Hans Tomas
dc.date.accessioned 2022-09-27T01:02:41Z
dc.date.available 2022-09-27T01:02:41Z
dc.date.issued 2022-06-16
dc.identifier.citation Agnarsdóttir , D , Sigurjónsdóttir , V K , Emilsdóttir , A R , Petersen , E , Sigfússon , G , Rögnvaldsson , I , Franzson , L , Vernon , H & Bjornsson , H T 2022 , ' Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia ' , Molecular Genetics and Genomic Medicine , vol. 10 , no. 7 , e1971 , pp. e1971 . https://doi.org/10.1002/mgg3.1971
dc.identifier.issn 2324-9269
dc.identifier.other PURE: 60193149
dc.identifier.other PURE UUID: 5f007f0b-9be6-43fb-96cb-f85adf3731f7
dc.identifier.other Scopus: 85131915882
dc.identifier.other unpaywall: 10.1002/mgg3.1971
dc.identifier.uri https://hdl.handle.net/20.500.11815/3485
dc.description Funding Information: The authors would like to thank the family of the patient for allowing us to write up the clinical course from this patient. The authors also would like to thank Herdís Gísladóttir, genetics nurse at the Department of Genetics and Molecular Medicine, Landspítali hospital. Publisher Copyright: © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
dc.description.abstract Background: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg191Trp), leading to an early presentation (4 h after birth) of cblB-type methylmalonic acidemia (MMA). Biochemical testing of this patient suggested B-12-responsiveness and thus the patient was treated with cyanocobalamin throughout life. Informed parental consent was obtained for this report. Results: Our patient had three metabolic decompensations in her life (at birth, at 1 month, and at 5 months). The first decompensation was probably linked to stress of delivery, second to rhinovirus infection, and third by co-infection of norovirus and enterovirus. At 3 months, the patient was noted to be tachypneic, although this was attributed to her underlying metabolic acidosis. At 5 months and 10 days, the patient was admitted with minor flu-like symptoms but developed severe diarrhea in hospital and upon rehydration had cardiac decompensation and was found to have undiagnosed dilated cardiomyopathy. Although, patient was treated aggressively with dextrose, hemodialysis, levocarnitine, and vasoactive agents, there was limited response to medications to treat cardiac failure, and eventually the patient passed away before turning 6 months old. Conclusions: Other than these three mild decompensations, patient had very good metabolic control, thus demonstrating that even without frequent metabolic decompensation, cardiomyopathy can be an observed phenotype in cblB-type MMA even very early in life, suggesting that this phenotype may be independent of metabolic control.
dc.format.extent e1971
dc.language.iso en
dc.relation.ispartofseries Molecular Genetics and Genomic Medicine; 10(7)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Lyfjafræði
dc.subject Lífefna- og sameindalíffræði
dc.subject Barnalæknisfræði
dc.subject Næringarfræðingar
dc.subject cblB
dc.subject dilated cardiomyopathy
dc.subject heart failure
dc.subject MMAB
dc.subject Cardiomyopathies/drug therapy
dc.subject Humans
dc.subject Female
dc.subject Amino Acid Metabolism, Inborn Errors/drug therapy
dc.subject Proto-Oncogene Proteins c-cbl/genetics
dc.subject Mutation
dc.subject Adaptor Proteins, Signal Transducing/genetics
dc.subject Genetics (clinical)
dc.subject Genetics
dc.subject Molecular Biology
dc.title Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version Peer reviewed
dc.identifier.pmid 35712814
dc.identifier.doi https://doi.org/10.1002/mgg3.1971
dc.relation.url http://www.scopus.com/inward/record.url?scp=85131915882&partnerID=8YFLogxK
dc.contributor.department Faculty of Medicine
dc.contributor.department Clinical Laboratory Services, Diagnostics and Blood Bank
dc.contributor.department Internal Medicine and Emergency Services

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