Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey

GLUT-1 deficiency: From pathophysilogy and genetics to abroad clinical spectrum

“…In patients with GLUT-1 DS ketogenic diet has been shown to be particularly beneficial in controlling seizures (reported cased of refractory seizures responding very well to ketogenic diet) and abnormal motions, including PED (refractory PED severely limiting walking responding to this treatment within days), without the need for anticonvulsants (20,21). Although the cognitive function is least responsive to ketogenic diet, reports suggest that patients that started earlier with ketogenic diet have overall better outcomes (6,20,21).…”

“…While glucose is the primary (and perhaps preferred) source of energy for the brain (either as glucose or in the form of lactate), the brain can also switch to alternative sources of energy such as ketone bodies, produced in the course of a ketogenic diet (1,3,20,21). This therapeutic approach has been used in the treatment of medication-refractory seizures for many years…”

“…The established diagnostic criteria for GLUT-1 DS included clinical findings consistent with metabolic encephalopathy (microcephaly, developmental delay often accompanies by paroxysmal symptoms such as seizures and movement disorders) and confirmed by low CSF glucose levels (hypoglycorrhachia, SCF glucose < 2.2 mmol/L) with normal plasma glucose levels and low ratio of blood-to-cerebrospinal fluid glucose (usually< 40-45%) (1-7). Ketogenic diet provided therapeutic benefits of varying degree for the diagnosed GLUT-1 DS patients, being more successful in controlling the paroxysmal symptoms then the cognitive function (20,21).…”

“…The theoretical concept that by-passes the defective glucose transport across the blood-brain barrier by offering the brain an alternative source of energy (ketone bodies) was proven therapeutically beneficial in GLUT-1 DS and over the decades the ketogenic diet become the "golden standard" in the treatment of this condition (6,20,21).…”

Neurodevelopmental Outcomes Based on Electroencephalographic Morphology with Suppression Bursts

“…In addition, some patients with SBs had a biotinidase deficiency, and their epilepsy was controlled using biotin and adjunctive antiepilepsy agents. Similar examples of treatable SBs include: folinic acid-responsive seizures and cerebral folate deficiency, which can be treated using folinic acid in addition to pyridoxine [20]; tetrahydrobiopterin deficiencies with or without hyperphenylalaninemia, which might respond to substitution therapy with tetrahydrobiopterin and neurotransmitter precursors [21]; creatinine deficiency syndromes, which can be treated using creatinine monohydrate and dietary restrictions [22]; and glucose transporter type 1 (GLUT1) deficiency syndrome, which usually responds to a ketogenic diet [23]. Although there are few such treatable cases, we should be mindful of these possibilities.…”