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)

Urinary total catecholamines, their metabolites and metabolite of serotonin were estimated in 32 mentally retarded children and 15 controls. Levels of total catecholamines. MHPG and 5-HIAA were not significantly different from controls. However, the mean VMA and HVA excretion in mentally retarded children was significantly increased compared to the control group. It is concluded that an altered metabolism of dopamine is involved in mental retardation.
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PMID:Urinary levels of biogenic amine metabolites in mentally retarded children. 246 53

The levels of blood serotonin and the urinary concentrations of 5-HIAA, DOPA, dopamine, adrenaline as well as the products of their conversion and disintegration were assessed in 104 oligophrenic patients of different age with different genesis (phenylketonurea, Down's disease, mental retardation of residual organic origin including the complicated syndrome of early childhood autism). The results obtained showed peculiar deviations in serotonin and catecholamine metabolism in each of the diseases, which were independent of the degree of mental retardation. Clinical-biochemical parallels point to considerable differences in the mechanisms of the revealed metabolic digressions in the studied forms of psychic retardation.
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PMID:[Biogenic amine metabolism in patients with oligophrenia of different origins]. 622 20

A 35-year-old female was reported who presented early onset and slowly progressive ataxia and retrocollis which appeared at the age of nine. On admission, neurological examination revealed cerebellar ataxia, dystonia of the neck and the right arm, myoclonus of the neck and the shoulder, slight mental retardation, supranuclear upper gaze palsy, and sensorineural hearing loss. Laboratory examination showed high serum CK activity. Electromyography and muscle biopsy findings suggested slight muscular involvement. CSF level of HVA and 5-HIAA were reduced. MRI demonstrated marked cerebellar atrophy and slight atrophy of the brain stem. To our knowledge, the characteristic combination of the neurological sign in this case has not been reported. This case was compared with EOCA (early onset cerebellar ataxia with retained tendon reflexes) and other juvenile onset cerebellar ataxia and dystonia.
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PMID:[A case of juvenile onset ataxia with dystonia, myoclonus, sensorineural hearing loss and mental retardation]. 826 7

Aspartate (ASP), glutamate (GLU), noradrenaline (NA), dopamine (DA) and its acidic metabolites DOPAC and HVA, serotonin (5-HT) and its metabolite 5-HIAA were simultaneously investigated in post-mortem tissue samples from right parahippocampal gyrus (temporal cortex) and frontal cortical pole (frontal cortex) of adults with Down syndrome (DS), and of neurologically healthy controls by use of high performance liquid chromatography (HPLC). In parahippocampal gyrus, ASP, GLU, NA, DOPAC and 5-HT levels were significantly decreased in patients with DS, compared to levels found in control subjects (approximately 50%). No significant changes were observed in frontal pole. ASP and GLU levels were significantly lower in parahippocampal gyrus than in frontal pole of DS, a regional distribution that could not be observed in control subjects. In conclusion, the results of this study suggest that the temporal cortex would be more affected than the frontal cortex in adult patients with DS, a finding in line with reports showing a marked hypometabolism and extensive cell loss in temporal cortex of DS, and with those showing that parahippocampal gyrus abnormality may correlate with the extent of mental retardation affecting this type of patients.
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PMID:Excitatory amino acids and monoamines in parahippocampal gyrus and frontal cortical pole of adults with Down syndrome. 909 40

Self-injurious behavior (SIB) and stereotyped behavior (SB) are major challenges for professionals in the field of mental retardation. From animal experiments it has become obvious that these behavioral disturbances are not purposeless but may emerge secondary to restrictive environment and may serve de-arousing objectives. In mentally retarded subjects, several hypotheses have been formulated concerning the pathogenesis of SIB, particularly about the involvement of serotonin and beta-endorphin, which are supported by beneficial treatment effects of the opiate antagonist naltrexone and serotonin modulating compounds, respectively. The present study was designed to investigate basal levels of stress-hormonal and serotonergic parameters as well as plasma levels of amino-acids and the beta-carboline norharman in a group of 64 mentally retarded subjects with SB and/or SIB. Allocation to three different groups comprising 17 retarded controls, 26 subjects with mainly SIB and 21 subjects with mainly SB, was originally performed using the scores on the factors Irritability, Stereotypic Behaviour and Hyperactivity of the Aberrant Behavioral Checklist. Because of the overlapping nature of the behavioral parameters, subjects were subsequently divided into three maximally contrasting groups, viz. predominantly SIB, predominantly SB and retarded controls, each comprising 11 subjects. With respect to beta-endorphin, no differences were found either between both the original and maximally contrasting groups or in comparison to nonretarded controls. As compared to retarded controls, a tendency to lower values for total cortisol and cortisol binding globulin appeared to be present in the SIB group, whereas in the SB group a tendency toward higher levels of the major serotonin metabolite 5-HIAA was found. In the contrasting SB group, a trend toward decreased total cortisol level was observed as compared to the retarded control group. In addition, significantly lower values for norharman and tryptophan were demonstrated in the total group of mentally retarded subjects as compared to non-retarded controls. The results of the present study, yielding co-existent disturbances in stress-hormonal and monoaminergic mechanisms as well as in the metabolism of norharman, are in line with the hypothesis that mentally retarded subjects are at risk for the development of stress-related behavioral disorders such as SIB and SB.
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PMID:Stress and self-injurious behavior; hormonal and serotonergic parameters in mentally retarded subjects. 1007 Nov 78