Ontology highlight
ABSTRACT:
SUBMITTER: Bugiardini E
PROVIDER: S-EPMC6679130 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Bugiardini Enrico E Pope Simon S Feichtinger René G RG Poole Olivia V OV Pittman Alan M AM Woodward Cathy E CE Heales Simon S Quinlivan Rosaline R Houlden Henry H Mayr Johannes A JA Hanna Michael G MG Pitceathly Robert D S RDS
Journal of clinical medicine 20190708 7
<i>TPK1</i> mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders. We report a case of <i>TPK1</i>-related disease presenting with Leigh-like syndrome and review the diagnostic utility of thiamine pyrophosphate (TPP) blood measurement. The proband, a 35-year-old male, presented at four months of age with recurrent episodes of post-infectious encephalopathy. H ...[more]