Glucose transporter 1 deficiency syndrome and other glycolytic defects.

[pyruvate dehydrogenase deficiency]

Glucose transporter 1 deficiency syndrome is emblematic of a brain energy failure syndrome . Energy failure also results from other genetically determined metabolic disorders , such as hypoglycemic syndromes , hypoketonemic syndromes associated with fatty acid oxidation defects , glycolytic enzymopathies , and mitochondrial defects . Glucose transporter 1 deficiency syndrome is particularly illustrative of this group of disorders and produces an infantile -onset epileptic encephalopathy that responds to a ketogenic diet . The electroencephalographic correlate is distinctive and emerges as a 2 .5 - to 4 -Hz spike-wave discharge in late infancy to early childhood . Infantile apnea and oscillatory eye movements reminiscent of opsoclonus may be the earliest signs of this condition . Mutations of the GLUT 1 gene are causative and transmitted as an autosomal dominant trait . Thioctic acid is a glucose transporter 1 activator , whereas barbiturates and methylxanthines are glucose transporter 1 inhibitors . The ketogenic diet is effective treatment for glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency . It also should benefit patients with neurologic symptoms resulting from a glycolytic enzymopathy .

Diseases
Validation

Diseases presenting "oscillatory eye movements reminiscent of opsoclonus may be the earliest signs of this condition" symptom

pyruvate dehydrogenase deficiency

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