Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.

ABSTRACT: Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.

SUBMITTER: Akaba Y 

PROVIDER: S-EPMC7981633 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature