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Results for “ketogenic diet”

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16 recordsLinked to original sources

PubMed2026

Ketogenic diet dampens excitatory neurotransmission by shrinking synaptic vesicle pools.

Ketogenic diet (KD) is used for the treatment of drug-resistant childhood epilepsy and has been proposed to improve outcomes in neurodegenerative diseases. However, the mechanisms by which KD alters brain circuitry remain unclear. Here, we investigated the impact of KD on hippocampal function through integrative analysis of gene expression and neurotransmission. We found that KD induces extensive transcriptional reprogramming, including altered expression of numerous synaptic genes. Proteomic and genomic profiling revealed significant changes in histone modifications, particularly at promoters of KD-regulated genes. Electrophysiological recordings showed that KD reduces excitatory synaptic gain and short-term plasticity at CA3-CA1 synapses, dampening the summation of excitatory inputs and enhancing the summation of inhibitory inputs. These functional changes were driven, in part, by a reduction in the readily releasable vesicle pool at excitatory synapses under KD. Together, our findings demonstrate that KD drives transcriptional remodeling of hippocampal circuits, leading to synaptic adaptations that may underlie its anti-epileptic and neuroprotective effects.

Animals↗

PubMed1979

Optic neuropathy in ketogenic diet.

A symmetrical, bilateral optic neuropathy is reported in 2 patients being treated with ketogenic diets for seizure control. Laboratory tests suggested a thiamine deficiency, and both patients recovered normal visual function after several weeks of treatment with thiamine. The risk of optic nerve dysfunction occurring during the treatment with a ketogenic diet can be minimised if routine vitamin B supplements are given and periodic evaluation of optic nerve function undertaken.

Child↗

PubMed2026

Comparison of clinical efficacy and gut microbiota characteristics in children with ASD treated with fecal microbiota transplantation and ketogenic diet.

OBJECTIVE: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and interaction, along with restricted, repetitive patterns of behavior. It is often accompanied by gastrointestinal dysfunction and gut microbiota dysbiosis. Fecal Microbiota Transplantation (FMT) and the Ketogenic Diet (KD) are interventions targeting the gut microbiota for ASD. METHODS: 30 participants were diagnosed with ASD according to DSM-5 and ADOS-2. ASD core symptoms were evaluated with CARS and ABC. Gut microbiota composition was analyzed by shotgun metagenomic sequencing. RESULTS: Both groups demonstrated significant improvements in core symptoms. In the FMT group, the mean CARS score significantly decreased from 34.87 to 33.53 (p < 0.01); in the KD group, it declined from 35.13 to 33 (p < 0.01). The mean ABC score reduced from 79.93 to 69.33 (p = 0.064) in the FMT group and from 63.07 to 42.73 (p < 0.01) in the KD group. Following the intervention, no statistically significant changes were observed in α-diversity or β-diversity within either group. LEfSe analysis revealed distinct post-intervention microbial signatures: FMT significantly enriched butyrate-producing taxa (Wujia chipingensis, Eubacterium sp. MSJ-33, and Butyrivibrio crossotus), while KD elevated Blautia massiliensis and decreased propionate metabolism -associated taxa (Veillonella sp. S12025-13 and Veillonella nakazawae). KEGG enrichment analysis revealed that KD enriched propionate metabolism (Fold enrichment = 3.747, q = 0.010) and aromatic compound degradation (Fold enrichment = 3.591, q = 0.010). CONCLUSIONS: Both interventions significantly improved clinical symptoms among children with ASD, potentially through distinct patterns of gut microbiota modulation. CLINICAL TRIALS NUMBER: NCT06348433 (03/21/2024).

Child↗

PubMed1979

Disordered mineral metabolism produced by ketogenic diet therapy.

Vitamin D and mineral metabolism status was examined in five children maintained chronically on combined ketogenic diet-anticonvulsant drug therapy (KG), and the results compared to those obtained in 18 patients treated with anticonvulsant drugs alone (AD) and 15 normal controls. KG patients exhibited biochemical findings of vitamin D deficiency osteomalacia: decreased serum 25-hydroxyvitamin D (25OHD) and calcium concentrations, elevated serum alkaline phosphatase and parathyroid hormone concentrations, decreased urinary calcium and increased urinary hydroxyproline excretion, and decreased bone mass. Although the KG and AD groups demonstrated similar reductions in serum 25OHD concentration, the KG patients exhibited a significantly greater reduction in bone mass. In response to vitamin D supplementation (5000 IU/day), mean bone mass in the KG group increased by 8.1 +/- 0.9% (P less than 0.001) over a 12-month period. These results suggest that ketogenic diet and anticonvulsant drug therapy have additive deleterious effects on bone mass and that these effects are partially reversible by vitamin D treatment.

Acidosis↗

PubMed1978

Medium chain triglyceride oil ketogenic diets in the treatment of childhood epilepsy.

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Child↗

PubMed1978

Ketogenic diets.

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Acidosis↗

PubMed1979

A comparative study of two diets in the treatment of primary exogenous obesity in children.

One hundred four children, six to fourteen years of age, with primary exogenous obesity were randomly distributed in order to be subjected to two different diets, ketogenic (low carbohydrate) and hypocaloric, for eight weeks. Body weight, serum triglycerides, cholesterol, a glucose tolerance test, blood glucose and plasma insulin determination were performed before and after both diets. The results revealed significant differences in body weight and triglyceride concentrations with the two diets although they were more remarkable with the ketogenic diet. There were significant differences in the fasting insulin levels, insulinogenic index, and insulin concentration after a glucose tolerance test in the patients subjected to a ketogenic diet.

Adolescent↗

PubMed1979

[Possibilities for weight reduction by means of diet].

The different dietetic measures for weight reduction are described. According to the existing overweight the therapeutic measures are classified in four steps. In the first step, with low overweight, the energy-containing drinks (soft drinks and alcoholic beverages) are avoided. If the overweight is greater an additional reduction of the energy content of meal is required. A real reduction-diet (less than 1.000 Kcal/day or 4.200 KJ/day) demands extensive knowledge of food composition and greater efforts in meal composition. The availability of formula diets is considered as a relief. During starvation (or total fasting) as the step 4 of weight reduction diet, an extreme metabolic alteration takes place, which is characterized by ketosis. The same metabolic alteration is found by a fat-protein-diet (a so-called ketogenic diet), where hypercholesterolemia and hyperuricemia are common side effects. The carbohydrate-protein weight reduction diet is poor in health risks. Furthermore the normal metabolic pattern is maintained during this kind of diet if enough carbohydrates are provided per day (i.e. 80-100 g/day).

Diet, Reducing↗

PubMed1977

Rapid diagnosis of pyruvate and ketoglutarate dehydrogenase deficiencies in platelet-enriched preparations from blood.

Radiochemical methods are described in detail to measure the activities of the pyruvate dehydrogenase complex and of the ketoglutarate dehydrogenase complex in platelet-enriched fractions. Determinations can be completed in one day with as little as 5 ml of venous blood. Activities are proportional to the length of the incubation and the amount of tissue protein added, show appropriate dependence on added cofactors, are stable for up to 2 days at -20 degrees C, and do not appear to be affected by diet. The pyruvate dehydrogenase complex appears to be fully activated (dephosphorylated) in these preparations. Activities were comparable in platelet-enriched fractions from 25 normal subjects and 25 patients with a variety of neurological and psychiatric diagnoses. Mean values (+/- S.E.M.) for these 50 individuals were 169+/-9 pmol/min per mg protein for the pyruvate dehydrogenase complex and 535+/-27 pmol/min per mg protein for the ketoglutarate dehydrogenase complex. These values are comparable to those found in cultured skin fibroblast with similar techniques. Deficient pyruvate dehydrogenase activity (19+/-6 and 11+/-4 pmol/min per mg protein) was demonstrated in platelet-enriched preparations from two brothers whose fibroblasts had previously been shown to be deficient in pyruvate dehydrogenase and who responed to a ketogenic diet. Experimental detail critical to obtaining reproducible results with these methods are stressed (notably the crucial importance of maintaining the purity of the radioactive substrates). These techniques allow identification of patients with pyruvate dehydrogenase deficiencies within one day without requiring liver or muscle biopsy.

Adolescent↗

PubMed2026

Cross-tissue immune profiling of APOE ε4 reveals early dysregulation in Alzheimer's disease.

INTRODUCTION: Apolipoprotein E (APOE) ε4 is the strongest genetic risk factor for late-onset Alzheimer's disease (AD), but its contribution to disease pathogenesis remains incompletely understood. METHODS: Here, we integrate proteomic profiling of plasma (n = 9028), cerebrospinal fluid (n = 1099), dorsolateral prefrontal cortex (n = 720), and superior temporal gyrus (n = 105) to define the immune phenotype associated with APOE ε4. RESULTS: We identify a conserved, allele dose-dependent pro-inflammatory immune protein signature across peripheral and central tissues independent of AD diagnosis. This signature also emerges in patient-derived cortical organoids prior to amyloid beta and tau pathology, supporting a genotype-driven mechanism. Cross-tissue comparisons reveal shared innate and antiviral responses alongside tissue-specific immune signaling. Notably, a 12-week medical ketogenic diet partially reversed the APOE ε4 immune signature. DISCUSSION: These findings position immune dysregulation as an early and tractable driver of AD risk in APOE ε4 carriers with direct implications for targeted prevention strategies.

Humans↗

PubMed2026

Epilepsy of infancy with migrating focal seizures: A scoping review of clinical features, diagnostic testing including genetics, long-term outcomes, mortality, and current and emerging therapeutic strategies.

BACKGROUND: Epilepsy of infancy with migrating focal seizures (EIMFS) is among the most severe developmental and epileptic encephalopathies (DEEs), marked by intractable multifocal seizures migrating across both hemispheres, profound developmental arrest, and high early mortality. Advances in next-generation sequencing have revealed a heterogeneous genetic architecture dominated by KCNT1 gain-of-function variants across more than 30 implicated genes, creating opportunities for precision therapeutics. OBJECTIVE: To systematically map published evidence on the clinical, electrophysiological, neuroimaging, genetic, and therapeutic landscape of EIMFS, and to delineate critical knowledge gaps and future research priorities. METHODS: A scoping review was conducted following the Arksey and O'Malley framework, searching PubMed, Ovid MEDLINE, Embase, Cochrane Library/CENTRAL, and ClinicalTrials.gov. RESULTS: Of 643 articles screened, 89 met inclusion criteria. Beyond confirmation of the canonical electroclinical phenotype, several gaps emerged: neonatal versus post-neonatal onset stratification by genetic etiology remains largely uncharacterized; genotype-specific EEG biomarkers are lacking except for a single small KCNT1 study; and the clinical significance of atypical EEG features-including burst suppression and hypsarrhythmia-is undefined. Neuroimaging literature documents progressive cerebral atrophy and myelination abnormalities without quantitative volumetry, diffusion tractography markers, or attribution to seizure burden, medication effects, or underlying etiology. Genetic diagnostic yield was 70-80%, with KCNT1 accounting for 30-50% of solved cases; however, genotype-outcome stratification is limited. Seizures were broadly refractory; potassium bromide, ketogenic diet, cannabidiol, and quinidine (in KCNT1-confirmed cases) showed partial efficacy. Emerging precision approaches include sodium channel blockers for SCN2A gain-of-function variants, novel small molecules, fluoxetine, antisense oligonucleotides, and divalent siRNA targeting KCNT1. Systemic-to-pulmonary collateral circulation causing severe cardiopulmonary complications was reported across multiple cases, yet no consensus screening protocol exists. CONCLUSIONS: EIMFS remains one of the most refractory epilepsy syndromes of infancy. Precision genetic diagnosis is essential to guide targeted therapy. International collaborative registries, standardized outcome measures, genotype-stratified biomarker studies, and rapid point-of-care genomic testing are urgently needed to advance evidence-based care for this highly vulnerable population.

Humans↗

PubMed2026

Late-onset epileptic spasms: presentation, aetiology and outcome.

Late-onset epileptic spasms (LOES) are epileptic spasms (ES) commencing after age 12 months, often misdiagnosed and having uncertain relationship to infantile spasms. Previous studies of mostly small LOES cohorts frequently reported 'cryptogenic' aetiologies. We studied the presentations, aetiologies, treatment responses and outcomes in a large LOES cohort, evaluated with modern neuroimaging and genomic testing. In this retrospective cohort study, 62 children with video-confirmed epileptic spasms, diagnosed between 2011 and 2021, were included. All had epileptiform activity on EEG, but none had hypsarrhythmia. Median age at epileptic spasms onset was 23 months (range 1-15 years) and median delay to diagnosis was 8 months (interquartile range: 3-15). Only 24% children were correctly diagnosed at presentation, common misdiagnoses being myoclonic epilepsies and non-epileptic phenomenon. Aetiology was identified in 95%. Structural-malformative aetiologies were present in 63% (most commonly focal cortical dysplasia and mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy). Other aetiologies were structural-acquired in 13% (mostly postnatal stroke and CNS infections), genetic in 13% (mostly intragenic variants and chromosomopathies) and oncological in 6% (history of leukaemia, two with CNS involvement). Children with structural aetiologies often had normal development prior to onset of epileptic spasms, a later median age of epileptic spasms onset and were more likely to have asymmetric or subtle epileptic spasms and additional seizures prior to epileptic spasms. Epileptic spasms ceased in 29% children treated with prednisolone, most having genetic aetiologies and in 35% treated with vigabatrin, all having structural-malformative aetiologies. Apart from clobazam, which was effective in 17% of children, all other antiseizure medications, vagus nerve stimulation and ketogenic diet therapy were ineffective. Epileptic spasms ceased in 86% (18/21) of children who underwent epilepsy surgery. At median follow-up of 10.3 years, 53% children were free of all seizures and 76% were free of epileptic spasms. More children with unilateral structural-malformative aetiologies achieved seizure freedom than other aetiologies, most commonly following surgery but occasionally following treatment with vigabatrin or clobazam. Impairment of cognitive function or adaptive behaviour (formally assessed in 90%) was significantly more common in children with genetic than structural aetiologies, and in children with ongoing seizures than seizure freedom. Among children who underwent epilepsy surgery, 62% achieved average or low-average adaptive functioning or normal intellectual capacity. This study highlights the importance of prompt recognition of epileptic spasms in older children for improved seizure and developmental outcomes. Brain malformations and insults are the predominant causes of LOES, and when unilateral, respond best to epilepsy surgery.

cognitive outcome↗

PubMed1975

The use of sulthiame- in myoclonic epilepsy of childhood and adolescence.

Sulthiame has been used by most investigators in psychomotor seizures, other focal seizures and grand-mal, usually in conjuction with other anticonvulsants. Reports on its use in myoclonic epilepsy and as a sole anti-convulsant are few and inconclusive. The present report presents the results of a study carried out on the use of sulthiame in 54 cases of myoclonic epilepsies originating in infancy, childhood and adolescence. The different types of myoclonic epilepsy are defined. An illustrative case report is included. Results indicated that sulthiame is the drug of choice, often as the sole anti-convulsive agent, in cases of "juvenile myoclonic epilepsy". In the myoclonic encephalopathies of childhood (the so-called "minor motor epilepsy" or Lennox-Gastaut syndrome), which are notoriously refractory to therapy, sulthiame appears to be an efficacious adjunct to currently-used agents, including benzodiazepines, succinimides, dipropyl acetate, steriods and a ketogenic diet.

Adolescent↗

PubMed1978

[Treatment of lennox syndrome with medium chain triglycerides (author's transl)].

Twelve cases of Lennox syndrome were treated with a ketogenic diet with medium chain triglycerides during an average period of five months. All the cases were resistant to drug treatment. In five cases seizures disappeared, in five the frequency decreased and two remained without changes. The alertness improved in seven cases. Electroencephalographic records did not show any important improvement. The diet was generally well tolerated and it only had to be discontinued in one case.

Child, Preschool↗

PubMed1979

Ketotic hypoglycemia of childhood--a clinical trial of several unifying etiological hypotheses.

We have studied 15 children referred to St. Göran's Children's Hospital because of suspected ketotic hypoglycemia. The patients were investigated according to a program designed to test several hypotheses--old and new--postulated to explain the etiology of ketotic hypoglycemia. We have used the classical ketogenic provocation with a low calorie, high fat diet and measured the blood levels of several substrates and hormones as well as the urinary excretion of certain metabolites and hormones. Out of the 15 children, 6 will fill the criteria of ketotic hypoglycemia at the time of study. The most remarkable finding in these 6 children in contrast to the other children studied was that they did not decrease their peripheral glucose utilization (measured as Kg) during starvation. These 6 children seemed to be more "advanced" in their adaptation to ketogenic diet in all other parameters studied. The children with ketotic hypoglycemia did not differ from the other children in plasma level of cortisol or urinary excretion of nitrogen, urea, 3-methylstidine and catecholamines. We favour the concept that the children with ketotic hypoglycemia represent the tail of the gaussian curve in the normal age-dependent development of the adaptation to starvation.

Alanine↗

PubMed1977

[Effect of high-carbohydrate diet in the form of sugar beet on glucose and ketone body levels in the blood serum of highly pregnant and freshly lactating cows].

In an experiment using 24 high-yielding cows (3rd and 6th lactations), group II was fed sugar beet as carbohydrate source (2 kg DM per animal and day) for 4 weeks before and for 4 weeks after parturition, whilst group I was given the equivalent amount of dried spent beet pulp. Sugar beet feeding during the dry period caused the glucose level in the blood to rise significantly from 48 to 55 mg/100 ml. On the 21st day of lactation the glucose concentration in group II (27 mg) had declined more strongly than in group I (37 mg). Feeding large amounts of easily soluble carbohydrates during the dry period obviously inhibits gluconeogenesis during early lactation. The ketone body level of group II was found to rise to 14 mg/100 ml by the 21st day of lactation (group I--4 mg), a level indicative of ketosis. The ketogenous action (strong formation of butyric acid in the rumen) of sugar beet enhances this effect, too. The daily milk yield did not vary much coming to 26.8 and 27.8 kg in the control and in the experimental group, respectively. The results allow to conclude that feeding fresh sugar beet to high-yielding cows just before and shortly after parturition is not advisable.

Animal Feed↗