Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sodium valproate was given to seven children with refractory epilepsy and mental retardation. Four of the children became fit free while another was much improved. Plasma levels of sodium valproate correlated well with the dose prescribed and did not approach the theoretical top-desirable level of 200 microgram/ml despite larger than recommended doses. Side effects were minimal and it is concluded that the drug is safe and useful.
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PMID:Sodium valproate (Epilim) in the treatment of refractory epilepsy. 34 42

In three infants with nonketotic hyperglycinemia, glycine was increased three-to fourfold in plasma, 13- to 28-fold in lumbar spinal fluid, and was higher yet in ventricular fluid. Oral sodium benzoate lowered cerebrospinal fluid (CSF) glycine by greater than 40%, but did not change the abnormal plasma: CSF ratio. An adult control, made hyperglycinemic with oral glycine, had a normal plasma: CSF ratio. Treatment of one patient with sodium benzoate from birth did not prevent mental retardation; the degree of brain stem depression was a function of CSF glycine in another patient. The persistance of glycine elevation in CSF, although therapy maintained normal concentration in plasma, appears to be caused by overproduction in brain and limitation of the high-capacity lumbar spinal reabsorptive mechanism. Treatment through lowering of CNS glycine by use of a ventricular shunt was explored.
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PMID:Cerebrospinal fluid glycine in nonketotic hyperglycinemic: effect of treatment with sodium benzoate and a ventricular shunt. 85 Apr 82

Case report of a 18 year old boy with short stature, microceophaly, mental retardation and multiple dysmorphic signs. At the age of 9 years a severe generalised osteoporosis was discovered. A pathological fracture of the greenwoor type healed without proper callus formation. The osteoporosis persists without signs of either deterioration or improvement. The serum phosphorus is slightly decreased, while serum calcium, alkaline phosphatase and renal functions are normal. The main biochemical finding is a constant hyperclaciuria of 6-13 mg/kg/24 h, which can be corrected by treatment with oral sodium phosphate. No other chronic disease could be found which would explain the bone disease. The complex disease of this boy does not fit into the known pictures of osteogenesis imperfecta, idiopathic juvenile osteoporosis or of idiopathic hypercalciuria, and might therefore be another type of demineralising bone disease. It is suggested, that the cause might be an impairment of the calcium fixation of collagen fibres during desmal ossification.
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PMID:[Uncommon form of idiopathic osteoporosis with hypercalciuria, growth retardation and mental retardation]. 115 69

Carbamazepine-induced hyponatremia has been reported in 21.7% of 61 patients with mental retardation who received the medication for a variety of reasons. We studied 40 patients with mental retardation receiving carbamazepine to determine the prevalence of hyponatremia. Overall, hyponatremia was found in only 5.0% of these patients. Correlations with sodium level and carbamazepine dose, serum drug level, and concomitant neuroleptic and anticonvulsant polytherapy were also examined. Treatment with carbamazepine resulted in a statistically, but not clinically, significant decrease in serum sodium levels in patients receiving anticonvulsant polytherapy. Decreases in serum sodium were not related to carbamazepine dose or blood levels. Only one patient with underlying schizophrenia and psychogenic polydipsia demonstrated clinically significant hyponatremia during carbamazepine therapy.
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PMID:Carbamazepine-induced hyponatremia in patients with mental retardation. 156 11

In a retrospective survey done from 1978-1988 in Japan, 32 male patients with ornithine transcarbamylase (OTC) deficiency were identified. We classified a neonatal and 2 late-onset groups, depending on clinical manifestations and the age at onset; group 1 (0-28 days; N = 10), group 2 (29 days-5 years; N = 13), and group 3 (greater than 5 years; N = 9). Compared to findings in the group 2 patients, there was a higher rate of mortality and a higher incidence of mental retardation in association with a great decrease in enzyme activity in group 1. In group 3, the mortality rate and enzyme activities were similar to those in group 1. However, patients in this group were asymptomatic prior to the first episode. Enzyme activities were measured mostly in autopsy samples. The serum citrulline levels (enzyme product) were highest in this group. Thus, the mutant enzymes were apparently labile with greater activities in vivo than in vitro. Treatments, including a protein-restricted diet, arginine supplementation, and sodium benzoate administration, resulted in a favorable prognosis for survivors with partial enzyme deficiency. We wish to emphasize that the incidence of late onset of this disease is higher than heretofore considered.
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PMID:Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. 201 37

The authors report the results obtained in 42 patients affected by infantile spasms syndrome during treatment with Sodium Dipropylacetic acid. The subjects were divided into two groups according to the aetiology: idiopathic and secondary. In the first group the use of DPK as determined the disappearance of the seizures in 6 cases (40%), reduction of the crises beyond 50% in 7 cases (46.6%), while in 2 subjects (13.3%) the crises persisted. In the secondary group the crises ceased in 3 cases (11.1%), in 17 (62.9%) there were a reduction of the crises beyond 50%, no response to the drug was observed in 7 subjects (25.9%). In 10 patients the anticonvulsant treatment was progressively diminished and was substituted with hormonal treatment. The long term follow up (1-6 years) gives the following results: the seizures persisted in 2 cases (18.18%) among the idiopathic form and in 6 cases (28.57%) among the secondary group. Mental retardation was found in 4 subjects (36.36%) among the idiopathic group and in 12 patients (57.14%) among the secondary group. The authors shortly report the side effect of the hormonal treatment: they prefer the initiation of treatment of I.S. with anticonvulsant drug and suggest to resort to the ACTH when the initial treatment is unsuccessful.
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PMID:[Therapy of infantile spasms (West syndrome) with sodium dipropylacetate]. 301 74

Oral administration of antiepileptic drugs can temporarily be impossible under certain conditions, such as altered states of consciousness, spike-wave stupour, gastro-intestinal disturbances with nausea and vomiting, prior to or during surgery or certain diagnostic procedures, and because of drug refusal in patients with mental retardation or psychiatric problems. Although rectal administration of sodium valproate (NaVPA) has been shown to be a possible alternative route, little is known about the bioavailability and local effects during repeated administration of NaVPA suppositories. These aspects were investigated in 13 epileptic children and adolescents on chronic NaVPA therapy. Eight patients were treated with the oral solution (Group A; mean age 10.6 years) and five patients with enteric coated tablets (Group B, mean age 16.4 years). In every patient five serum levels of VPA over a 24 h period were measured under steady-state conditions. Thereafter, suppositories were administered for 2-7 days and serum levels were again determined (identical dosing and sampling times). Bioavailability of NaVPA was calculated on the basis of the area under the concentration vs. time curve over 24 h. The average bioavailability for suppositories compared with the oral form was 112.4% in Group A and 99.5% in Group B. Fluctuations of serum VPA levels were very similar with suppositories and oral solution, and more pronounced than with the enteric coated tablets. Stool frequency was not increased by repeated administration of suppositories, except for a three-fold increase in one patient. There was no objective or subjective evidence of local irritation from the suppositories. In conclusion, NaVPA suppositories have the same bioavailability under steady-state conditions as oral preparations and they are well tolerated.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Bioavailability of sodium valproate suppositories during repeated administration at steady state in epileptic children. 311 82

To investigate the possibility that anti-CNS antibodies may play a pathogenic role in a number of neurological and psychiatric disorders, a population study was undertaken. Serum samples were obtained from a total of 257 adults and were screened against sodium dodecyl sulphate polyacrylamide gel electrophoretic blots of various normal, necropsy-derived adult human brain regions. The incidence of IgG immunoreactive banding in the total sample was 30%. Within the diagnostic groups the incidence of banding was: controls 32%, schizophrenia 28%, mental retardation 27%, cerebellar ataxia 33%, Parkinson's disease 22%, myasthenia gravis 45% and epilepsy 31%. The differences are not statistically significant. There was no significant difference in the numbers and locations of bands between the various diagnostic groups and the controls. The overall incidence of immunoreactivity corresponding to the high molecular weight subunit of neurofilaments was only 6%, thus not confirming a previously reported incidence of 95%. The similarity between the diagnostic and the control sera suggests that caution should be exerted in interpreting the pathogenic significance of anti-CNS immunoreactive banding on Western blots.
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PMID:Anti-CNS antibodies in neurological and psychiatric disorders. 369 10

Sisters with a mild variant of non-ketotic hyperglycinaemia resulting from a defect in the T-protein of the glycine cleavage system had different clinical outcomes. The older sister was ascertained at 6 months of age because of mental retardation. She received only brief treatment with sodium benzoate from 11-15 months and at 15 years of age is profoundly retarded and has epilepsy. The younger sister was diagnosed 36 h after birth, was treated with strychnine, sodium benzoate and arginine from the neonatal period and at 27 months of age is only moderately retarded and free of seizures. The possible role of strychnine in the improved outcome is discussed.
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PMID:Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect. 376 93

Two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria) were investigated. Assays of erythrocyte enzyme levels in relatives revealed additional clinically healthy carriers. The girls had chronic metabolic acidosis, which was corrected by substitution with bicarbonate. They had an increased rate of hemolysis which was well compensated. Their granulocyte function was normal when tested in vitro. In both girls mental retardation developed progressively without additional clinical neurological symptoms. Their electroretinograms were abnormal indicating disturbed retinal electrophysiological function. Therapeutic trials were performed with oral administration of glutathione (Tathion), mercaptopropionylglycine (Thiola) and vitamin E. None of these compounds had an effect on the urinary excretion of 5-oxoproline, acid-base balance, pathological electroretinograms or the clinical condition. Initially, Thiola therapy increased the low levels of glutathione in patient erythrocytes but after several months of treatment the concentration of glutathione declined to pretreatment levels. There was no indication that orally administered glutathione, mercaptopropionylglycine or vitamin E had a beneficial effect in the doses used. Nevertheless, vitamin E administration has been continued in addition to the correction of acidosis with sodium bicarbonate.
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PMID:Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria). 404 46


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