Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome

作者：Klepper Joerg^*

来源：Neuropediatrics, 2013, 44(4): 235-236.

DOI：10.1055/s-0033-1336015

• glut1 deficiency
• SLC2A1
• ketogenic diet

Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified. Potential disease mechanisms in SLC2A1-negative Glut1 deficiency are discussed.

• 出版日期2013-8