TABLE 4.
Commonly held assumptions and facts in G1D
Assumption | Fact | References |
---|---|---|
The blood-brain barrier is defective | Synaptic abnormalities are independent of the blood-brain barrier | [9, 22] |
G1D is an energy failure syndrome | The tricarboxylic acid cycle is preserved in the mouse G1D brain | [7] |
CSF/blood glucose ratio is diagnostic | The denominator is excessively dependent upon non-disease related factors | |
CSF glucose derives from brain tissue | CSF glucose is primarily excreted by the choroid plexus | [47] |
Genotype – phenotype correlations indicate a continuum of a single syndrome | Phenotypes diverge widely and constitute in effect separable syndromes | |
Seizures are manifest | EEG can reveal a large number of nonapparent seizures | [118] |
Ketone bodies (betahydroxybutyric and acetoacetic acids) are a complete alternative energetic source | These ketone bodies supply energy but do not refill tricarboxylic acid precursors lost in the course of normal metabolism | [15] |
FDG-PET reflects glucose uptake | FDG-PET represents radioactive atom accumulation (influx minus effux) |