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In addition, this patient had markedly elevated CSF pyruvate, a low lactate\u2010to\u2010pyruvate molar ratio, and an abnormal pyruvate peak at 2.4\u2009ppm on brain magnetic resonance spectroscopy. Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in <jats:italic>SLC19A3<\/jats:italic> as 1 in 232 individuals in the general population, for an estimated prevalence of the disease of approximately 1 in 215,000 individuals. The disease is thus more frequent than previously recognized, and the presence of a pyruvate peak on spectroscopy could serve as an important diagnostic clue.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38189","type":"journal-article","created":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T15:39:00Z","timestamp":1492011540000},"page":"1502-1513","source":"Crossref","is-referenced-by-count":19,"title":["Biotin\u2010thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in <i>SLC19A3<\/i>, and calculation of prevalence based on allele frequencies from aggregated next\u2010generation sequencing data"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-1046","authenticated-orcid":false,"given":"Carlos R.","family":"Ferreira","sequence":"first","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Division of 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