Novel Compound Heterozygous Variants of
ETHE1
chronic diarrhea
elevated ethylmalonic acid
ethylmalonic encephalopathy
genetic sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
02
08
2019
accepted:
23
03
2020
entrez:
5
5
2020
pubmed:
5
5
2020
medline:
5
5
2020
Statut:
epublish
Résumé
Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than one hundred EE patients have been diagnosed worldwide. The clinical manifestations include chronic diarrhea, petechiae, orthostatic acrocyanosis, psychomotor delay and regression, seizures, and hypotonia. The
Identifiants
pubmed: 32362910
doi: 10.3389/fgene.2020.00341
pmc: PMC7181787
doi:
Types de publication
Journal Article
Langues
eng
Pagination
341Informations de copyright
Copyright © 2020 Chen, Han and Yao.
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