A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report

被引:0
|
作者
Loredana De Pasquale
Petronilla Meo
Francesco Fulia
Antonio Anania
Valerio Meli
Antonina Mondello
Maria Tindara Raimondo
Viviana Tulino
Maria Sole Coletta
Caterina Cacace
机构
[1] Barone Romeo Hospital,Azienda Sanitaria Provinciale di Messina
关键词
ETF; ETFDH ; Glutaric aciduria type II; Multiple acyl-CoA dehydrogenase deficiency; Case report;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [32] Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
    Zheng, Yiming
    Zhao, Yawen
    Zhang, Wei
    Wang, Zhaoxia
    Yuan, Yun
    BMC NEUROLOGY, 2020, 20 (01)
  • [33] Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
    Yiming Zheng
    Yawen Zhao
    Wei Zhang
    Zhaoxia Wang
    Yun Yuan
    BMC Neurology, 20
  • [34] Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
    Xi, Jianying
    Wen, Bing
    Lin, Jie
    Zhu, Wenhua
    Luo, Sushan
    Zhao, Chongbo
    Li, Duoling
    Lin, Pengfei
    Lu, Jiahong
    Yan, Chuanzhu
    JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (03) : 399 - 404
  • [35] Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review
    Siano, Maria Anna
    Mandato, Claudia
    Nazzaro, Lucia
    Iannicelli, Gennaro
    Ciccarelli, Gian Paolo
    Barretta, Ferdinando
    Mazzaccara, Cristina
    Ruoppolo, Margherita
    Frisso, Giulia
    Baldi, Carlo
    Tartaglione, Salvatore
    Di Salle, Francesco
    Melis, Daniela
    Vajro, Pietro
    FRONTIERS IN PEDIATRICS, 2021, 9
  • [36] Multiple Acyl-CoA-dehydrogenase deficiency (MADD) - A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH
    Laemmer, A. B.
    Rolinski, B.
    Ahting, U.
    Heuss, D.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2011, 307 (1-2) : 166 - 167
  • [37] Adult-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Report of Two Cases
    Abualhayjaa, Ahmad
    Abualhayjaa, Ali
    Null, Joseph
    Yousef, Omar
    Khumage, Khalid
    Bertorini, Tulio
    ANNALS OF NEUROLOGY, 2024, 96 : S272 - S273
  • [38] Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases
    Kim, Yoo Jinie
    Ko, Jung Min
    Song, Junghan
    Lee, Kyung-A
    ANNALS OF LABORATORY MEDICINE, 2018, 38 (06) : 616 - 618
  • [39] Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series
    Altolaguirre, Cristina Viguera
    Stergachis, Andrew B.
    Sweetser, David A.
    Gold, Nina B.
    NEUROHOSPITALIST, 2025,
  • [40] Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency
    Kaphan, E.
    Ali, H. Bou
    Gastaldi, M.
    Acquaviva, C.
    Vianey-Saban, C.
    Rouzier, C.
    Fragaki, K.
    Bannwarth, S.
    Paquis-Flucklinger, V
    Romero, N.
    Behin, A.
    Lombes, A.
    Jardel, C.
    Rigal, O.
    Laforet, P.
    REVUE NEUROLOGIQUE, 2018, 174 (10) : 731 - 735