Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

@article{PrezDueas2013ReversibleLA,
  title={Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.},
  author={Bel{\'e}n P{\'e}rez-Due{\~n}as and Mercedes Serrano and M. Rebollo and Jordi Muchart and Eva Gargallo and C{\'e}line Dupuits and Rafael Artuch},
  journal={Pediatrics},
  year={2013},
  volume={131 5},
  pages={e1670-5}
}
Thiamine transporter-2 deficiency is a recessive disease caused by mutations in the SLC19A3 gene. Patients manifest acute episodes of encephalopathy; symmetric lesions in the cortex, basal ganglia, thalami or periaqueductal gray matter, and a dramatic response to biotin or thiamine. We report a 30-day-old patient with mutations in the SLC19A3 gene who presented with acute encephalopathy and increased level of lactate in the blood (8.6 mmol/L) and cerebrospinal fluid (7.12 mmol/L), a high… CONTINUE READING