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

  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},
  volume={131 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


Publications citing this paper.
Showing 1-10 of 18 extracted citations

Emerging aspects of treatment in mitochondrial disorders

Journal of Inherited Metabolic Disease • 2015
View 1 Excerpt


Publications referenced by this paper.
Showing 1-10 of 19 references

Copyright © 2013 by the American Academy of Pediatrics

Grove Village, Illinois

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Movement disorders : official journal of the Movement Disorder Society • 2012

A rare case of severe lactic acidosis in a preterm infant : lack of thiamine during total parenteral nutrition

A Fattal-Valevski, A Kesler, BA Sela
J Pediatr Endocrinol Metab • 2011

A wide spectrum of clinical and brain MRI fi ndings in patients with SLC 19 A 3 mutations

K Yamada, K Miura, K Hara
BMC Med Genet • 2010

Neuroimaging fi ndings in pediatric Wernicke encephalopathy : a review

VS Subramanian, JS Marchant, HM Said
Neuroradiology • 2010

Similar Papers

Loading similar papers…