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Year Number of Results
2016 2
2017 7
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2020 6
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37 results

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Page 1
Ketogenic diet therapy for the treatment of pediatric epilepsy.
Haridas B, Testino A, Kossoff EH. Haridas B, et al. Epileptic Disord. 2025 Apr;27(2):144-155. doi: 10.1002/epd2.20320. Epub 2024 Dec 12. Epileptic Disord. 2025. PMID: 39665749 Free PMC article. Review.
Some of these indications include Glut1 deficiency, pyruvate dehydrogenase deficiency, infantile epileptic spasms syndrome, epilepsy with myoclonic-atonic seizures, and formula-fed children. ...
Some of these indications include Glut1 deficiency, pyruvate dehydrogenase deficiency, infantile epileptic spasm …
Dietary Treatments for Epilepsy.
Haridas B, Kossoff EH. Haridas B, et al. Neurol Clin. 2022 Nov;40(4):785-797. doi: 10.1016/j.ncl.2022.03.009. Epub 2022 Sep 28. Neurol Clin. 2022. PMID: 36270691 Review.
The diet has been shown to be an effective treatment of choice for Glut1 deficiency, pyruvate dehydrogenase deficiency, infantile spasms, and superrefractory status epilepticus among others. ...
The diet has been shown to be an effective treatment of choice for Glut1 deficiency, pyruvate dehydrogenase deficien …
Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment.
Ebertowska A, Ludkiewicz B, Klejbor I, Melka N, Moryś J. Ebertowska A, et al. Folia Morphol (Warsz). 2020;79(2):191-197. doi: 10.5603/FM.a2020.0020. Epub 2020 Feb 19. Folia Morphol (Warsz). 2020. PMID: 32073132 Free article. Review.
Mutation in genes encoding subunits of PDC leads to pyruvate dehydrogenase deficiency. Abnormalities in PDC activity result in severe metabolic and brain malformations. For better understanding the development and mechanism of pyruvate dehydrogenase …
Mutation in genes encoding subunits of PDC leads to pyruvate dehydrogenase deficiency. Abnormalities in PDC activity re …
Ketogenic Diets in the Treatment of Epilepsy.
Elia M, Klepper J, Leiendecker B, Hartmann H. Elia M, et al. Curr Pharm Des. 2017;23(37):5691-5701. doi: 10.2174/1381612823666170809101517. Curr Pharm Des. 2017. PMID: 28799513 Review.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Finsterer J. Finsterer J. Pediatr Neurol. 2020 Dec;113:66-74. doi: 10.1016/j.pediatrneurol.2020.07.004. Epub 2020 Jul 6. Pediatr Neurol. 2020. PMID: 33053453 Review.
Specific treatment can be offered for stroke-like episodes, mitochondrial epilepsy, mitochondrial neurogastrointestinal encephalopathy, Leber hereditary optic neuropathy, thiamine-responsive Leigh syndrome, primary coenzyme Q deficiency, primary carnitine deficiency, Friedreich a …
Specific treatment can be offered for stroke-like episodes, mitochondrial epilepsy, mitochondrial neurogastrointestinal encephalopathy, Lebe …
Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.
Kowalska A, Figura M, Zawadka M, Koziorowski D. Kowalska A, et al. Clin Neurol Neurosurg. 2024 Jun;241:108307. doi: 10.1016/j.clineuro.2024.108307. Epub 2024 Apr 30. Clin Neurol Neurosurg. 2024. PMID: 38701546 Free article.
A periodic lactate increase in serum and cerebrospinal fluid was detected. We describe a case of pyruvate dehydrogenase deficiency being diagnosed only 25 years after the onset of symptoms and highlight PDHC deficiency as a possible cause of treatable dystoni …
A periodic lactate increase in serum and cerebrospinal fluid was detected. We describe a case of pyruvate dehydrogenase def …
The use of ketogenic diets in children living with drug-resistant epilepsy, glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency: A scoping review.
Cameron T, Allan K, Kay Cooper. Cameron T, et al. J Hum Nutr Diet. 2024 Aug;37(4):827-846. doi: 10.1111/jhn.13324. Epub 2024 Jun 4. J Hum Nutr Diet. 2024. PMID: 38838079
It can be used as a medical treatment for drug-resistant epilepsy (DRE), glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency. The aim of this scoping review was to map the KD literature, with a focus on epilepsy and associated meta …
It can be used as a medical treatment for drug-resistant epilepsy (DRE), glucose transporter 1 deficiency syndrome and pyruvate de …
PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.
Marchet S, Catania A, Ardissone A, Montano V, Einvag K, Iermito MP, Sala D, Spagnolo M, Mauro E, Lamantea E, Cecchi G, Lopriore P, Mancuso M, Lamperti C. Marchet S, et al. Clin Ther. 2025 May;47(5):390-395. doi: 10.1016/j.clinthera.2025.02.004. Epub 2025 Mar 13. Clin Ther. 2025. PMID: 40087083 Clinical Trial.
PURPOSE: The 6 months pilot, single arm, phase I/II, open-label clinical trial PHEMI investigated the safety and efficacy of daily administration of phenylbutyrate in reducing lactic acidosis by at least 20% in 3 children (ages 7-10 yrs) with pyruvate dehydrogenase …
PURPOSE: The 6 months pilot, single arm, phase I/II, open-label clinical trial PHEMI investigated the safety and efficacy of daily administr …
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Gavrilovici C, Rho JM. Gavrilovici C, et al. J Inherit Metab Dis. 2021 Jan;44(1):42-53. doi: 10.1002/jimd.12283. Epub 2020 Aug 11. J Inherit Metab Dis. 2021. PMID: 32654164 Review.
Metabolic epilepsies arise in the context of rare inborn errors of metabolism (IEM), notably glucose transporter type 1 deficiency syndrome, succinic semialdehyde dehydrogenase deficiency, pyruvate dehydrogenase complex deficiency, nonketotic hyperglyc …
Metabolic epilepsies arise in the context of rare inborn errors of metabolism (IEM), notably glucose transporter type 1 deficiency syndrome, …
37 results