Early diagnosis is crucial in order to initiate treatment during the important early stages of brain development. To make a proper diagnosis, it is important to know the various symptoms of<unk>  and how those symptoms evolve with age.<unk>  is diagnosed based on the clinical features in combination with determining the glucose concentration in the CSF and/or a genetic analysis through a lumbar puncture (spinal tap). A low glucose value in CSF (<2.2 mmol/L) or lowered CSF/plasma glucose ratio (<0.4)are indicatieve of<unk> . A genetic mutation in the SLC2A1 gene also confirms the diagnosis, although mutations have not been identified in approximately 15% of<unk>  patients. A highly specialized lab test called the red blood cell uptake assay may confirm<unk>  but is not commercially available.
GLUT1 deficiency
Glutaminase deficiency
Glycerol kinase deficiency
WNT4 deficiency
Multiple carboxylase deficiency
Pyruvate kinase deficiency
2,4 Dienoyl-CoA reductase deficiency
NGLY1 deficiency