Ontology highlight
ABSTRACT:
SUBMITTER: Chen X
PROVIDER: S-EPMC7181787 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Chen Xiaohong X Han Lin L Yao Hui H
Frontiers in genetics 20200417
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 <i>ETHE1</i> gene has been shown to be associated with EE, and genetic sequencing provides concrete evidence for diagnosis. To date, only 37 variants of <i>ETHE1 ...[more]