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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acidosis, Lactic
• Share to Biotin
• Share to Blood Chemical Analysis