This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months later, seizure frequency was reduced and psychomotor development had improved. At the same time he presented some side effects, such as 2 episodes of significant increases in cholesterol and triglycerides associated with viral respiratory infections. The latter decreased with a supplementation of \u3c9-3 fatty acids and an increase in caloric intak
Item does not contain fulltextPURPOSE: Epilepsy in GLUT1 deficiency syndrome is generally drug-resis...
Certain drugs are known to cause metabolic changes resulting in altered metabolic profiles. We repor...
Background: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruv...
This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented...
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease characterized by a wide range of n...
Pyruvate dehydrogenase complex deficiency (PDCD) is a rare neurodegenerative disorder associated wit...
Background: Growth failure and growth hormone deficiency (GHD) have been reported as one accessory f...
Pyruvate dehydrogenase complex deficiency (PDCD) is one of the most common neurodegenerative disorde...
Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive i...
Contains fulltext : 48360.pdf (publisher's version ) (Closed access)BACKGROUND: GL...
Background:The ketogenic diet (KD) is a high-fat, low-carbohydrate, and normal-protein diet that has...
The main source of energy for brain and other organs is glucose. To obtain energy for all tissue, gl...
The ketogenic diet (KD) is a high-fat, low-carbohydrate diet with an established efficacy for treati...
More than 25 of children with epilepsy develop refractory seizures unresponsive to both old and new...
The anticonvulsant effects of ketosis were first reported in 1921 by Geyelin and Wilder. The therape...
Item does not contain fulltextPURPOSE: Epilepsy in GLUT1 deficiency syndrome is generally drug-resis...
Certain drugs are known to cause metabolic changes resulting in altered metabolic profiles. We repor...
Background: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruv...
This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented...
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease characterized by a wide range of n...
Pyruvate dehydrogenase complex deficiency (PDCD) is a rare neurodegenerative disorder associated wit...
Background: Growth failure and growth hormone deficiency (GHD) have been reported as one accessory f...
Pyruvate dehydrogenase complex deficiency (PDCD) is one of the most common neurodegenerative disorde...
Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive i...
Contains fulltext : 48360.pdf (publisher's version ) (Closed access)BACKGROUND: GL...
Background:The ketogenic diet (KD) is a high-fat, low-carbohydrate, and normal-protein diet that has...
The main source of energy for brain and other organs is glucose. To obtain energy for all tissue, gl...
The ketogenic diet (KD) is a high-fat, low-carbohydrate diet with an established efficacy for treati...
More than 25 of children with epilepsy develop refractory seizures unresponsive to both old and new...
The anticonvulsant effects of ketosis were first reported in 1921 by Geyelin and Wilder. The therape...
Item does not contain fulltextPURPOSE: Epilepsy in GLUT1 deficiency syndrome is generally drug-resis...
Certain drugs are known to cause metabolic changes resulting in altered metabolic profiles. We repor...
Background: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruv...