Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM.
Adult
Death Domain Receptor Signaling Adaptor Proteins
Diagnostic Errors
Electron-Transferring Flavoproteins
/ genetics
Encephalomyelitis, Acute Disseminated
Guanine Nucleotide Exchange Factors
Humans
Iron-Sulfur Proteins
/ genetics
Male
Middle East
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mutation
Oxidoreductases Acting on CH-NH Group Donors
/ genetics
Yemen
ADEM
Abdominal pain
Arabia
Late-onset
MADD
Journal
Multiple sclerosis and related disorders
ISSN: 2211-0356
Titre abrégé: Mult Scler Relat Disord
Pays: Netherlands
ID NLM: 101580247
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
27
09
2020
revised:
16
11
2020
accepted:
10
12
2020
pubmed:
1
1
2021
medline:
15
5
2021
entrez:
31
12
2020
Statut:
ppublish
Résumé
We report a case of late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) with recurrent abdominal pain, vomiting, and impaired consciousness as the initial symptoms in Yemen; the case showed distinctive characteristics from those of Asian or Caucasian patients. Initially, he was misdiagnosed with pancreatitis, acute disseminated encephalomyelitis(ADEM), and fatty liver. Final diagnosis was further confirmed by electromyography, muscle biopsy, uric organic acid analysis, and a novel missense mutation in exon 7 (c.807A>C) of ETFDH was identified by next-generation sequencing. To our knowledge, we report this mutation in an adult MADD patient as well as late-onset MADD in a Middle East country for the first time. MADD is characterised by varied genotypes and broad spectrum of clinical manifestations among different populations and ages, which requires more attention and awareness in the clinic.
Identifiants
pubmed: 33383363
pii: S2211-0348(20)30763-X
doi: 10.1016/j.msard.2020.102689
pii:
doi:
Substances chimiques
Death Domain Receptor Signaling Adaptor Proteins
0
Electron-Transferring Flavoproteins
0
Guanine Nucleotide Exchange Factors
0
Iron-Sulfur Proteins
0
MADD protein, human
0
Oxidoreductases Acting on CH-NH Group Donors
EC 1.5.-
Types de publication
Case Reports
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
102689Informations de copyright
Copyright © 2020. Published by Elsevier B.V.