Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The responsibility of the folate deficiency in some neuropsychiatric disorders is recent knowledge. The role of the folate on the nervous system is not yet well definite, but the action on the metabolism of the amino-acids, on the purine and the pyrimidine synthesis and on the metabolism of the catecholamins are certainly essential. The neuropsychiatric diseases secondary to the folate deficiency are numerous: dementia, schizophrenia like syndromes, insomnia, irritability, forgetfulness, endogenous depression, organic psychosis, pueperal psychosis, peripheral neuropathy, myelopathy (spinal cord syndrome and/or pyramidal tract damage), restless legs syndrome. Clinically the diagnosis may be difficult with sub acute combined degenration secondary to the pernicious anaemia, and the dosage of the folate (in serum, in red-cells and in cerebrospinal fluid) is necessary. The congenital defects in the uptake or utilization of the folate are associated with neuropsychiatric disturbances. The treatment is easy and safe if the vitamin B12 deficiency is eliminated and if employed with caution in epileptic patients because folate can induced seizures.
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PMID:[Folate and the nervous system (author's transl)]. 22 16

This multicentre study in 142 transfusion-dependent patients with chronic renal failure maintained by haemodialysis was performed to establish the appropriate dose regimen of rHuEpo and define its long-term safety profile. Only one of 132 patients eligible for efficacy analysis did not achieve the haemoglobin target of greater than or equal to 10 g/dl; this particular patient had folate deficiency and overt hyperparathyroidism. Regular blood transfusions were no longer necessary in any patients, however five patients needed blood transfusions only once, not due to rHuEpo failure: two for iron deficiency and three for intercurrent disease. In parallel with the haemoglobin increase a statistically significant improvement in quality of life scores was observed. The weekly dose required to maintain median haemoglobin between 10 and 10.5 g/dl for 1 year (n = 79) was 200-225 U/kg, applied as two or three i.v. injections. Mean serum ferritin decreased from 1900 to 1300 ng/ml and transferrin saturation from 60% to 30%; this feature was associated with statistically significant decrease of pre-study elevated liver enzymes. The treatment had no untoward effect on the outcome of renal transplantation (n = 24). Of the 56 patients who experienced hypertensive episodes during rHuEpo therapy, 47 had a history of hypertension and nine had not. The patient incidence during the first 3 months was 28.9% and fell markedly to 4% after 1 year. Only two hypertensive episodes could not be controlled and the patients dropped out. Seizures occurred in 11 patients, most of them during early treatment; annualised incidence during the first 3 months was 7.78 per year vs 2.07 per year for seizures beyond 3 months treatment. Clinical presentation, patients' history, haemoglobin pattern, BP recordings, brain scan, and EEG indicated that the pathophysiology is multifactorial, with emphasis on rate of haemoglobin increase. Therefore a smooth haemoglobin increase rate, induced by a conservative starting dose regimen (50 U/kg thrice weekly) is recommended, to allow the circulation to adapt to changes in haematocrit/viscosity and O2 delivery. The majority of the observed adverse reactions were related to rHuEpo's therapeutic effect, i.e. increase the haematocrit. The side-effects are therefore largely predictable and can be successfully managed.
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PMID:Treatment of transfusion-dependent anaemia of chronic renal failure with recombinant human erythropoietin. A European multicentre study in 142 patients to define dose regimen and safety profile. 179 95

Four patients with severe cerebral palsy, mental retardation, and seizures who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases). Bone marrow findings in all four patients were abnormal, suggestive of a myelodysplastic syndrome. These hematologic findings have not been previously reported and are important for monitoring a patient on valproic acid therapy. The Pelger-Huet anomaly may be mistaken for an elevated band count, the macrocytic anemia appears not to be secondary to a vitamin B12 or folate deficiency, and the thrombocytopenia may be sensitive to drug dosage. The bone marrow changes appear to be a drug-related myelodysplastic phenomenon.
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PMID:Severe hematologic toxicity of valproic acid. A report of four patients. 210 2

Following a historical review and critical appraisal of the literature (problems of definition, selection, frequency, etiology, relation and classification) clinical findings from a series of retrospective and prospective studies (four samples with altogether 47 epileptic patients) are presented and discussed, as well as the results of EEG, CT and other relevant investigations. (1) 'Schizophrenia-like' interictal (periictal) psychoses in the epilepsies, which are not rare, appear to be true schizophreniform (= schizophrenic-accentuated) syndromes in a setting of 'clear' consciousness. There is no case of alternative psychosis and EEG 'forced normalization'. (2) Between schizophrenic-accentuated syndromes associated with regularly symptomatic epilepsies and genuine (endogeneous) schizophrenias, there are quantitative but no qualitative differences. Often there is a congruence and no possibility of differentiating in the transverse study. This is also true both for the affective and the cognitive disturbances ('structure of consciousness'); the latter are not suitable for separating the psychopathological syndromes of epilepsies. A discrimination between 'genuine' and 'symptomatic' schizophrenia is no longer meaningful. (3) A true (hereditary) coincidence of (genuine) epilepsy and schizophrenia occurs obviously very seldom. (4) Numerous findings are presented, concerning the conditions in which schizophrenic-accentuated syndromes appear. The following relevant factors are discussed: hereditary, latency, duration of illness, type and frequency of seizures, type and localization of EEG foci, type, extent and topography of brain lesions, quantity and quality of psychopathological findings as well as 'organic' psychosyndromes. The possible triggering of psychoses by psychosocial factors, low intelligence, chronic folate deficiency and other specific risk factors and the role of neurotransmitter disorders (GABA hypotheses) are discussed. Finally proposals are made concerning prevention and therapy. Especially often diagnosed non-alternative schizophrenic syndromes in epileptic patients must be controlled by blood levels of antiepileptics. There is a transitional rank, constituted by defined determinants between the poles epilepsy and schizophrenia or a converging course of those syndromes. The results should lead to more frequent EEG and CT eventual magnetic resonance imaging or positron emission tomography-investigations in schizophrenic patients.
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PMID:Schizophrenic syndromes in epilepsies. 266 7

Hyperphenylalaninemia in infants and children may be caused by a deficiency of dihydropteridine reductase (DHPR). Recommended therapy includes folinic acid as a source of tetrahydrofolate, a phenylalanine-restricted diet, and both dopamine and serotonin precursors. We report a child with progressive basal ganglia and other subcortical calcifications prior to the use of folinic acid. Six other reported cases of DHPR deficiency demonstrated similar calcifications prior to folinic acid therapy. Since this pattern of calcification also resembles that seen in CNS folate deficiency caused by both congenital folate deficiency and that which is methotrexate-induced, we propose that intracranial calcification in DHPR deficiency is caused by inadequate CNS tetrahydrofolate and may be prevented by the use of folinic acid. Our patient achieved excellent seizure control following the use of folinic acid, suggesting either a direct or indirect anticonvulsant effect of this compound in patients with DHPR deficiency.
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PMID:Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. 278 51

Deficiencies of specific vitamins produce consistent symptoms of psychiatric disorder. Thiamine deficiency, which is common in alcoholism, can produce confusion and psychotic symptoms, in addition to neurological signs. Vitamin B12 and folate deficiency may contribute symptoms of disorientation, depression or psychosis; their measurement is a part of routine dementia work-ups. Pyridoxine deficiency results in seizures, although the effects of exogenously administered pyridoxine are not clearly understood in depression and anxiety - the disorders in which it is most frequently used clinically. The use of vitamins has been most prominent in psychiatry in the treatment of schizophrenia, where large doses of nicotinic acid were initially given alone and later combined with other vitamins and minerals. Several theoretical models were described to support the use of vitamins in schizophrenia. These included: the parallels of schizophrenia to the psychiatric symptoms of pellagra; hypotheses of a defect in adrenaline metabolism; and the accumulation of psychotoxic substances which produce psychotic symptoms. Initially, positive results were reported over 30 years ago, but have not been replicated by thorough investigations. An extensive series of comprehensive placebo-controlled trials failed to show efficacy for any of the vitamin therapies tested. Although clearly less effective than antipsychotic drug treatment, vitamin therapy is not without risks - adverse effects have been reported with nicotinic acid, pyridoxine and vitamin C.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Vitamins in psychiatry. Do they have a role? 389 44

The association of truncal ataxia with a number of different factors has been studied in a group of 95 epileptic outpatients on chronic anticonvulsant treatment. The 28 patients showing truncal ataxia had been epileptic for a longer period of time, received a significantly larger number of drugs, and had higher serum levels of phenobarbital than the non-ataxic group. Serum folate levels were significantly lower in the ataxic group. A role is postulated for anticonvulsant-induced folate deficiency in the appearance of truncal ataxia presenting after prolonged anti-convulsant therapy, either by increasing the serum levels of the anticonvulsants or through other, unknown mechanisms. The presence of tonic-clonic seizures, presumably associated with brain anoxia, was not associated with the appearance of truncal ataxia.
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PMID:Truncal ataxia in chronic anticonvulsant treatment. Association with drug-induced folate deficiency. 621 66

Serum folate concentrations, blood counts, and antiepileptic drug concentrations were measured during 133 pregnancies of 125 women with epilepsy. There was an inverse correlation between serum folate concentrations and concentrations of phenytoin and phenobarbitone. The number of epileptic seizures during pregnancy showed no association with serum folate concentrations. No cases of maternal tissue folate deficiency or fetal damage attributable to low maternal serum folate were observed. Maternal serum folate concentrations for infants with structural birth defects, "fetal hydantoin syndrome," or perinatal death were similar to those for healthy babies. A low dose (100 to 1000 micrograms daily) of folate supplement appeared sufficient for pregnant women with epilepsy despite the antifolic action of antiepileptic medication. Monitoring folate concentrations in pregnant women with high serum concentrations of phenytoin or phenobarbitone is recommended.
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PMID:Serum folate concentrations during pregnancy in women with epilepsy: relation to antiepileptic drug concentrations, number of seizures, and fetal outcome. 641 Dec 31

The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge-Weber syndrome.
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PMID:Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency. 836 57

The various types of acute porphyria are discussed, as well as their mode of inheritance and the enzyme deficiencies responsible for the symptoms. The symptoms and signs of an acute attack are then described, especially those due to neuropathies and to disturbances of behaviour. Agents which can precipitate attacks are listed. These are most frequently drugs, and as they include those used for anti-epileptic treatment problems soon arise as seizures often occur in this condition. The main complications are hypertension and renal failure, and examples of hyponatraemia and folate deficiency are illustrated. The urgency to diagnose this disorder lies in the need to avoid precipitating factors. Screening tests are discussed, and those needed to confirm the diagnosis. The prognosis has improved over the years, due to increased awareness of the disorder, and better management. During an acute attack the treatment of pain and vomiting will be of particular importance, and then haematin or chelating agents can be tried. With better management most of those who have inherited acute porphyria should be able to lead a normal life.
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PMID:The acute porphyrias. 1048 69


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