Biotin-responsive basal ganglia disease: A treatable differential diagnosis of leigh syndrome

Felix Distelmaier, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava, Ertan Mayatepek, Jürgen Kohlhase, Michael Karenfort

Research output: Chapter in Book/Report/Conference proceedingChapter

22 Scopus citations


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 basal ganglia lesions and neurological symptoms until BBGD is excluded. In addition, we exemplify that deformation-field-based morphometry of brain magnetic resonance images constitutes a novel quantitative tool, which might be very useful to monitor disease course and therapeutic effects in neurometabolic disorders.

Original languageEnglish (US)
Title of host publicationJIMD Reports
Number of pages5
StatePublished - 2014

Publication series

NameJIMD Reports
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312


  • Brain magnetic resonance imaging
  • Leigh syndrome
  • SLC19A3 gene
  • Vasogenic edema
  • Ventral globus pallidus

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)


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