Deficiency epilepsy

A small fraction of epileptics treated with anticonvulsants dilantin, phenytoin, diphenylhydantoin) develop folate deficiency. Epilepsy is not a rare disease. Hence, there is an awareness of the possibility of the occurrence of megaloblastic anemia in epileptics treated with the aforementioned anticonvulsant. Supplementing epileptics with folate can alleviate the deficiency however, the supplements may also result in an increase in Ihe seizure rate. Thus, physicians must be prepared to halt folate supplementation of epileptics beuig treated for anemia. 

Fohc acid is safe, even at levels of daily oral supplementation up to 5—10 mg (97). Gastrointestinal upset and an altered sleep pattern have been reported at 15 mg/day (98). A high intake of foHc acid can mask the clinical signs of pernicious anemia which results from vitamin deficiency and recurrence of epilepsy in epileptics treated with dmgs with antifolate activity (99). The acute toxicity (LD q) is approximately 500 and 600 mg per kg body weight for rats and mice, respectively (100). 

Myoclonic epilepsy with ragged-red fibers (MERPF) is a rare syndrome which shows clear maternal inheritance and a variable clinical pattern including progressive myoclonus, cerebellar ataxia, dementia, and muscle weakness. It is associated with an A-to-G transition at position 8344 of the tRNA Lys gene in the mtDNA. The mutation is heteroplasmic and produces similar multicomplex deficiencies as are seen in KSS. 

Folate supplements will rectify the megaloblastic anemia of vitamin Bj2 deficiency but may hasten the development of the (irreversible) nerve damage found in B,2 deficiency. There is also antagonism between fohc acid and the anticonvulsants used in the treatment of epilepsy. 

Kash, SF, Johnson, RS, Tecott, LH, Noebels, JL, Mayfield, RD, Hanahan, D and Baekkeskov, S (1997) Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc. Natl. Acad. Sci. USA 94 14060-14065. 

Brusa, R.. Zimmermann, F., Koh, D. S. et al. Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. Science. 270 1677-1680,... 

DeLorey, T. M., and Olsen, R. W. (1999) GABA and epileptogenesis comparing gabrb3 gene-deficient mice with Angelman syndrome in man. Epilepsy Res. 36, 123-132. 

Although we have discussed briefly the implications of biochemical individuality for alcoholism, for gout, and for arthritis, these are merely examples. A host of other diseases need to be attacked with the same point of view and hold the same promise of success. These include multiple sclerosis, muscular dystrophy, myasthenia gravis, atherosclerosis, essential hypertension, ulcers, diabetes, epilepsy, rheumatic heart disease, nephrosis, liver cirrhosis, congenital heart disease (as well as a host of other malformations which probably involve nutritional deficiencies during fetal life) and even infective diseases such as tuberculosis or poliomyelitis. 

A 27-year-o d woman with epilepsy has been taking phenytoin to control her seizures. She is now pregnant, and her physician is considering changing her medication to prevent potential bleeding episodes in the in nt. What biochemical activity might be deficient in the infant if her medication is continued ... 

GAMT deficiency has been known for more than 10 years now and several affected patients have been reported [6]. The severity of clinical symptoms varies widely. Affected patients show developmental delay with absence of active speech and, in older patients, autism with self injury. More severely affected patients present with severe extrapyramidal symptoms and intractable epilepsy. Biochemical diagnosis can be made by analysis of GA in the plasma or urine. 

In animals, manganese deficiency results in wide-ranging disorders, e.g,. impaired growth, abnormal skeletal structure, disturbances of reproduction, and defective lipid and carbohydrate metabolism. Although overt manganese deficiency has nol been induced in humans, some forms of epilepsy... 

Coulter DL. Carnitine deficiency in epilepsy Risk factors and treatment. J Child Neurol 1995 10(Suppl. 2) S32-9. 

Interest in the possibility of human Mn deficiency increased in 1979 with the report of Papavasiliou and co-workers (6) that some epileptics were characterized by lower than normal blood concentrations of Mn. Based on the knowledge that Mn deficiency in experimental animals could result in increased susceptibility to electroshock and drug-induced seizures (7), these authors suggested that Mn deficiency could be an etiological factor for epilepsy in some individuals. 

Evidence for the idea that Mn deficiency may be a cause, rather than an effect, of some human pathologies has recently been provided by Carl et al. (13) who reported that the low blood Mn concentrations observed in epileptics tend to occur in the subgroup of patients characterized by epilepsy of unknown origin, rather than in the subgroup in which the epilepsy was known to be the result of head injury. This observation suggests that the low Mn concentrations are not a function of either seizure activity or medication, as these two parameters were similar in the two patient subgroups reported on. Thus, it is reasonable to suggest that Mn deficiency may be a causative factor in some epileptics. 

Phosphoglycerate kinase deficiency, the seventh enzyme step of the glycolytic pathway, is an inherited X-linked recessive disorder, meaning it mostly affects males, although females are carriers. Onset is infancy to early adulthood. Symptoms may include anaemia, enlargement of the spleen, mental retardation and epilepsy (seizures) more rarely, weakness, exercise intolerance, muscle cramps and episodes of myoglobinuria occur. 

Antiepileptics. Large doses of vitamin B6 can reduce serum levels of phenytoin and phenobarbital, and thus cause loss of control of epilepsy. Vitamin B6 in excess of 10 mg a day should be avoided. The antiepileptics phenytoin, phenobarbital and primidone can cause folate deficiency (resulting in... 

Increased xanthurenic acid excretion after 10 g DL-tryptophan was demonstrated by Lerner et al. (L3) in 3 of 5 patients with rum fits. This metabolic defect was corrected by pyridoxine administration, as observed in a second tryptophan load test. Using the same xanthurenic acid test, significant vitamin Ba deficiency was not observed in patients with alcoholism and associated epilepsy, acute and chronic alcoholism, cirrhosis, acute hallucinosis-tremulousness, acute peripheral neuropathy, Wemicke-Korsakoff syndrome, and nonalcoholic, healthy individuals. It is postulated that pyridoxine deficiency is etiologically related to rum fits (L3). 

Epilepsy Signs of vitamin D deficiency may occur in epileptics treated with anticonvulsants such as dilanhn. The drugs can stimulate the activity of enzymes of the endoplasmic reticulum that catabolize and inactivate the vitamin. 

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