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GLUT1 deficiency syndrome in clinical practice
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Abstract
GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain
and is effectively treated by means of a ketogenic diet. In clinical practice the
diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms,
diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment
alternative ketogenic diets and their long-term side effects as well as novel compounds
such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current
diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view
of these recent developments.