<scp>l</scp>‐Carnitine Supplementation in Childhood Epilepsy: Current Perspectives

Vivo, Darryl C. De; Bohan, Timothy P.; Coulter, David L.; Dreifuss, Fritz E.; Greenwood, Robert; Nordli, Douglas R.; Shields, W. Donald; Stafstrom, Carl E.; Tein, Ingrid

doi:10.1111/j.1528-1157.1998.tb01315.x

Cited by 165 publications

(102 citation statements)

References 58 publications

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“…Carnitine facilitates long-chain fatty acid transport into mitochondria, enhances ␣-keto acid oxidation, and modulates intramitochondrial free coenzyme A (CoA) by regulating CoA/acyl CoA ratios (4). VPA (especially in adjunctive therapy) reduces carnitine levels and depletes intramitochondrial CoA (4,11). The latter effects, among others, cause impaired energy production and may lead to accumulation of potentially toxic short-and medium-chain acyl-CoA compounds.…”

Section: Discussionmentioning

confidence: 99%

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Serum and CSF Glutamine Levels in Valproate‐related Hyperammonemic Encephalopathy

et al. 2002

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Summary:Purpose: To investigate ammonia and glutamine levels in valproate (VPA)-related hyperammonemic encephalopathy (VHE).Methods: We reviewed the medical records and EEG recordings of seven adults diagnosed with VHE.Results: Venous ammonia levels were elevated in five (71%) of the seven patients. Elevated serum or cerebrospinal fluid (CSF) glutamine levels were found in four (80%) of five cases tested, including two who had normal ammonia levels. Initial behavioral signs included violent outbursts in three patients, paranoid ideation severe enough to require restraint in two cases, and milder abnormalities in two instances. The severity of encephalopathy was not related to any particular serum VPA level. In four patients serum VPA levels did not exceed 100 g/ml, and in one case, VHE developed after taking only one 250-mg dose. Symptoms eventually cleared after reducing the dose of, or discontinuing, VPA. Liver-function tests were normal. Each of six patients tested had EEG findings that supported the diagnosis of VHE and excluded nonconvulsive status epilepticus. The rate of normalization of one patient's serum glutamine level and the EEGs of two cases correlated better with the timing of their delayed clinical recovery than did the more rapid rate of decline of the serum ammonia levels. Conclusions: Serum or CSF glutamine levels are initially elevated in a majority of patients with suspected VHE, sometimes in the absence of hyperammonemia. Glutamine levels may be useful adjunctive laboratory tests for the diagnosis of VHE.

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Section: Discussionmentioning

confidence: 99%

“…Carnitine was given to one patient (case 7) in our series, even before low total and free carnitine levels were reported by the laboratory. A consensus panel now recommends carnitine therapy for a variety of conditions (11).…”

Section: Discussionmentioning

confidence: 99%

Serum and CSF Glutamine Levels in Valproate‐related Hyperammonemic Encephalopathy

et al. 2002

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“…During routine use, VPA may induce elevations in liver enzymes shortly after the initiation of the drug; however, these enzymes almost always return to normal after the reduction of dose or with the supplementation of L-carnitine [32,37]. Any alteration in VPA metabolism, as seen with acute overdose, chronic dosing, or fulminant hepatic failure, will cause an elevation of -oxidation products resulting in further hepatic injury [61].…”

Section: What Occurs With Valproic Acid Toxicity?mentioning

confidence: 99%

“…Although these latter metabolites have a minor role, they can be highly toxic in patients on chronic therapeutic dosing or after an acute overdose. 4-en-VPA has been incriminated in the development of cerebral edema, hepatotoxicty, and hyperammonemia [8,19,29,[31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48].…”

Section: How Is Valproic Acid Metabolized?mentioning

confidence: 99%

Case files of the Children’s Hospital of Michigan Regional Poison Control Center: The use of carnitine for the management of acute valproic acid toxicity

Katiyar

Aaron

2007

J. Med. Toxicol.

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A 28-year-old African-American male was found unresponsive outside of his girlfriend's house around 7 o'clock in the morning. He spent the night at the girlfriend's house and was last witnessed to be awake about 12 hours earlier. The girlfriend and her family were unable to awaken the patient and called emergency medical services (EMS). There was no history of headache, dizziness, fever, chills, nausea, vomiting, seizures, trauma, depressive thoughts, or suicidal ideation. When EMS arrived, they administered 6 mg of naloxone intramuscularly without effect, and the patient was transported to the emergency department (ED).After arriving in the ED, the cardiac monitor displayed a narrow-complex rhythm with a rate of 85-90 per minute. His initial vital signs were: heart rate 91/min; blood pressure 148/80 mmHg; respiratory rate 24/min; temperature 35.1°C (95.1°F) rectally; and pulse oximetry 100% on non-rebreather face mask oxygen. A fingerstick glucose determination was 106 mg/dL.Physical examination revealed a well developed, well nourished individual who was obtunded and unresponsive. His pupils were 2 mm, unreactive to light, and without nystagmus. He had diffuse bilateral wheezing, regular heart rate without any murmurs, and decreased bowel sounds. The patient had warm skin with good distal pulses in all extremities and no cyanosis, erythema, or edema. There was no clonus or hyperreflexia, and the gag reflex was intact.His past medical history was only pertinent for an old gunshot wound to the head. He developed a seizure disorder and was taking divalproex, 500 mg BID. Reportedly, he was allergic to carbamazepine and phenytoin. The patient smoked cigarettes, but the family stated that he had no history of alcohol or illicit drug use.A 12-lead electrocardiogram showed a sinus rhythm with a rate of 92 bpm, a PR interval of 134 msec, a QRS duration of 90 msec, and a QTc of 601 msec. A head CT and chest radiograph were unremarkable. Laboratory tests were obtained.

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“…Stężenie L-karni-child neurology r e V i e w p a p e r tyny w surowicy krwi wynosi od 30 do 90 µmol/l (średnio 55 µmol/l) i zależy od wieku oraz płci, mniejsze stężenie jest obserwowane w surowicy noworodków oraz u kobiet [3,7]. U noworodków stężenie L-karnityny zwiększa się we krwi w ciągu pierwszych dwóch tygodni życia, a następnie ulega ustabilizowaniu [8]. W organizmie dorosłego człowieka znajduje się około 20 g karnityny, najwięcej (98%) jest w mięśniach szkieletowych i w sercu, około 1,5% w wątro-bie i w nerkach [1].…”

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Primary L-carnitine deficiencies – symptoms, clinical syndromes, proceed ings

Fliciński¹,

Malendowicz-Major²,

Steinborn³

2016

Child Neurology

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StreSzczenieW artykule przedstawiono aktualny stan wiedzy na temat pierwotnych niedoborów L-karnityny. Ponadto w artykule opisano właściwości, funkcje oraz objawy niedoboru L-karnityny. L-karnityna jest zaliczana do substancji witamionopodobnych i odgrywa istotną rolę w organizmie człowieka zwłaszcza w procesie β-oksydacji kwasów tłuszczowych. Objawy niedoboru karnityny są mało specyficzne i z tego powodu są często niezdiagnozowane, szczególnie u dzieci. Wyodrębnia się trzy typy niedoboru karnityny: pierwotny układowy niedobór L-karnityn, pierwotny miopatyczny niedobór L-karnityny oraz wtórny niedobór L-karnityny. Pierwotny układowy niedobór karnityny jest jedną z najczęstszych chorób związanych z zaburzeniami metabolizmu lipidów i jest spowodowany przez mutację w genie SLC22A5, która jest dziedziczona autosomalnie recesywnie. Objawy pierwotnego mięśniowego niedoboru karnityny postę-pują powoli i zwykle rozpoczynają się w dzieciństwie, jak do tej pory nie udało się ustalić mutacji genetycznej, która odpowiadałaby za ten typ niedoboru L-karnityny. Wczesne rozpoznanie oraz włączenie L-karnityny może przyczynić się w niektórych przypadkach do uratowania życia. Słowa kluczowe: L-karnityna, zespoły niedoborowe L-karnityny, pierwotny układowy niedobór karnityny, pierwotny miopatyczny niedobór karnityny abStract The goal of this article is to present the current state of knowledge about primary L-carnitine deficiencies. Furthermore, this article describes the features, functions and symptoms of L-carnitine deficiency. L-carnitine is a vitamin and plays an important role in human body, particularly in β-oxidation of fatty acids. The symptoms of L-carnitine deficiency are non-specific and therefore are undiagnosed, especially in children. There are three types of carnitine deficiency: primary systemic carnitine deficiency, primary myopathic carnitine deficiency and secondary carnitine deficiency. Primary systemic carnitine deficiency, the most common disorder of lipid metabolism, is an autosomal recessive disease caused by mutations in the SLC22A5 gene. The symptoms of primary myopathic carnitine deficiency are progressing slowly and usually start in childhood, so far the genetic mutation which is responsible for this type of L-carnitine deficiency is unknown. Early diagnosis and supplementation of L-carnitine can contribute to save life of some patients. Key words: L-carnitine, L-carnitine deficiency syndrome, primary carnitine deficiency, primary myopathic carnitine deficiency Skróty zastosowane w artykule: BBD -dioksygeneza butyrobetainy; Co-A -koenzym A; acetylo-CoA -acetylo-koenzym A; PUNK -pierwotny układowy niedobór karnityny;, została odkryta z izolacji mięśni w 1905 roku, a nazwa tej substancji pochodzi z języka łacińskiego od słowa carnus, co oznacza -mięso [1,2]. W organizmie karnityna występuje pod postacią dwóch izomerów L i D, przy czym aktywność biologiczną wykazuje tylko L-karnityna. Zapotrzebowanie na L-karnitynę jest pokrywane w 25% przez endogenną syntezę, a pozostałe 75% dostarczane jest wraz z pokarm...

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l‐Carnitine Supplementation in Childhood Epilepsy: Current Perspectives

Cited by 165 publications

References 58 publications

Serum and CSF Glutamine Levels in Valproate‐related Hyperammonemic Encephalopathy

Serum and CSF Glutamine Levels in Valproate‐related Hyperammonemic Encephalopathy

Case files of the Children’s Hospital of Michigan Regional Poison Control Center: The use of carnitine for the management of acute valproic acid toxicity

Primary L-carnitine deficiencies – symptoms, clinical syndromes, proceed ings

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