Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 173, Issue 6, Pages 1502-1513Publisher
WILEY
DOI: 10.1002/ajmg.a.38189
Keywords
biotin-thiamine responsive basal ganglia disease; magnetic resonance spectroscopy; pyruvate; SLC19A3; thiamine metabolism dysfunction syndrome 2; thiamine transporter-2 deficiency
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Funding
- Intramural NIH HHS [Z99 HG999999] Funding Source: Medline
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Biotin-thiamine responsive basal ganglia disease is an inborn error of metabolism caused by mutations in SLC19A3, encoding a transporter of thiamine across the plasma membrane. We report a novel mutation identified in the homozygous state in a patient with typical brain MRI changes. In addition, this patient had markedly elevated CSF pyruvate, a low lactate-to-pyruvate molar ratio, and an abnormal pyruvate peak at 2.4 ppm on brain magnetic resonance spectroscopy. Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in SLC19A3 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.
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