{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T21:45:03Z","timestamp":1791755103393,"version":"4.3.4"},"reference-count":10,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Episodic encephalopathy due to mutations in the thiamine pyrophosphokinase 1 (TPK1) gene is a rare autosomal recessive metabolic disorder. Patients reported so far have onset in early childhood of acute encephalopathic episodes, which result in a progressive neurologic dysfunction including ataxia, dystonia, and spasticity. Here, we report the case of an infant with TPK1 deficiency (compound heterozygosity for two previously described pathogenic variants) presenting with two encephalopathic episodes and clinical stabilization under oral thiamine and biotin supplementation. In contrast to other reported cases, our patient showed an almost normal psychomotor development, which might be due to an early diagnosis and subsequent therapy.<\/jats:p>","DOI":"10.1055\/s-0040-1715631","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T23:03:26Z","timestamp":1603321406000},"page":"123-125","source":"Crossref","is-referenced-by-count":7,"title":["Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants"],"prefix":"10.1055","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2461-961X","authenticated-orcid":false,"given":"Matthias","family":"Eckenweiler","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes A.","family":"Mayr","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Gr\u00fcnert","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Medical Genetic Center Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4638-3460","authenticated-orcid":false,"given":"Rudolf","family":"Korinthenberg","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,10,21]]},"reference":[{"issue":"06","key":"ref1","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1016\/j.ajhg.2011.11.007","article-title":"Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway","volume":"89","author":"J A Mayr","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ymgme.2014.09.010","article-title":"Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations","volume":"113","author":"S Banka","year":"2014","journal-title":"Mol Genet Metab"},{"issue":"48","key":"ref3","doi-asserted-by":"crossref","first-page":"34129","DOI":"10.1074\/jbc.274.48.34129","article-title":"Molecular cloning and expression of a mouse thiamin pyrophosphokinase cDNA","volume":"274","author":"K Nosaka","year":"1999","journal-title":"J Biol Chem"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ana.24998","article-title":"Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors","volume":"82","author":"J D Ortigoza-Escobar","year":"2017","journal-title":"Ann Neurol"},{"issue":"21","key":"ref5","doi-asserted-by":"crossref","first-page":"3919","DOI":"10.1016\/j.jmb.2013.07.014","article-title":"Molecular mechanisms of disease-causing missense mutations","volume":"425","author":"S Stefl","year":"2013","journal-title":"J Mol Biol"},{"issue":"08","key":"ref6","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1212\/WNL.0000000000004270","article-title":"Thiamine-responsive disease due to mutation of tpk1: importance of avoiding misdiagnosis","volume":"89","author":"F Invernizzi","year":"2017","journal-title":"Neurology"},{"issue":"03","key":"ref7","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1515\/jpem-2018-0363","article-title":"Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing","volume":"32","author":"L Zhu","year":"2019","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ymgmr.2013.12.007","article-title":"Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies","volume":"1","author":"J L Fraser","year":"2014","journal-title":"Mol Genet Metab Rep"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1093\/jn\/135.1.42","article-title":"Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood","volume":"135","author":"T I Vlasova","year":"2005","journal-title":"J Nutr"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/s00438-018-1517-3","article-title":"Reduced thiamine binding is a novel mechanism for TPK deficiency disorder","volume":"294","author":"W Huang","year":"2019","journal-title":"Mol Genet Genomics"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1715631.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T00:27:56Z","timestamp":1616200076000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1715631"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,21]]},"references-count":10,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2021,3,19]]},"published-print":{"date-parts":[[2021,4]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1715631","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,21]]}}}