Ontology highlight
ABSTRACT:
SUBMITTER: Distelmaier F
PROVIDER: S-EPMC4110325 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
JIMD reports 20131029
Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive disorder, which is caused by mutations in the SLC19A3 gene. BBGD typically causes (sub)acute episodes with encephalopathy and subsequent neurological deterioration. If untreated, the clinical course may be fatal. Our report on a 6-year-old child with BBGD highlights that the disease is a crucial differential diagnosis of Leigh syndrome. Therefore, biotin and thiamine treatment is recommended for any patient with symmetrical ...[more]