Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Galactosemia is an autosomal recessive, inborn error of galactose metabolism due to the deficiency of galactose-I-phosphate uridyl transferase. Late-onset neurologic complications may develop despite Galactose restriction. Three adult patients are reported. They suffered from mental retardation. Two of them developed progressive cerebellar ataxia, spastic gait and postural tremor. The magnetic resonance imaging revealed moderate cortical atrophy, multifocal areas of increased signal in the periventricular white matter on T2-weighted images, and in one case, abnormal myelination. The Fluoro-2-deoxy-D-glucose position emission tomography showed different patterns of regional hypometabolism.
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PMID:[Late neurologic complications of galactosemia: study of 3 cases]. 767 42

Our views on paediatric nutrition have considerably changed during the last 20 years. Some hereditary metabolic diseases testify to the remarkable efficacy of a specific preventive dietetics avoiding the development of mental retardation. Although certain deficiencies (in iron, fluorine, folates, vitamin D) are persisting in France, the major problems concern the prevention in childhood of allergy, obesity, atherosclerosis, high blood pressure, osteoporosis and even certain cancers, all diseases which play a crucial role in the morbidity and mortality of adults. Numerous uncertainties still exist, but in the present state of our knowledge we can already develop some recommendations which should replace the much abusive publicity that prevails in the information given to the public.
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PMID:[Towards preventive dietetics in children]. 850 35

Various nuclear analytical methods have been developed and applied to determine the elemental composition of calcified tissues (teeth and bones). Fluorine was determined by prompt gamma-activation analysis through the 19F(rho, alpha, gamma)16O reaction. Carbon was measured by activation analysis with 3He ions, and the technique of proton-induced x-ray emission (PIXE) was applied to simultaneously determine calcium, phosphorus, and trace elements in well-documented teeth. Dental hard tissues (enamel, dentine, cementum, and their junctions) and different parts of the same tissue were examined separately. With the use of a proton microprobe, we measured the surface distribution of fluorine and other elements on and around carious lesions on the enamel. The depth profiles of fluorine, and other elements were also measured right up to the amelodentin junction. We discuss the development of various nuclear techniques and their applications, mainly in the field of dental health and to some extent in the study of the role of lead in mental retardation. We do not mention other important areas of calcified tissue research where these techniques could play an important role (e.g., in accurate and nondestructive measurements of calcium, phosphorus, and other elements in small bone biopsies taken from patients with metabolic bone disorders). No suitable chemical method appears to be available that can provide accurate assessment of calcium, phosphorus, and other trace elements in small bone biopsies. Moreover, the nondestructive nature of the nuclear methods has an extra advantage in that the bone samples, which are normally rather small in quantity, subsequently can be used for histologic examination.
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PMID:Nuclear analytical methods in calcified tissue research. 874 17

Experimental data published in recent years showed that up to 10% of all cases of mild to severe idiopathic mental retardation may result from small rearrangements of the subtelomeric regions of human chromosomes. To detect such cryptic translocations, we developed a "telomeric" multiplex fluorescence in situ hybridization (M-FISH) assay, using a set of previously published and commercially available subtelomeric probes. This set of probes includes 41 cosmid/PAC/P1 clones located from less than 100 kilobases to approximately 1 megabase from the end of the chromosomes. Similarly, a published mouse probe set, comprised of BACs hybridizing to the closest known marker toward the centromere and telomere of each mouse chromosome, was used to develop a mouse-specific "telomeric" M-FISH. Three different combinatorial labeling strategies were used to simultaneously detect all human subtelomeric regions on one slide. The simplest approach uses only three fluors and can be performed in laboratories lacking sophisticated imaging equipment or personnel highly trained in cytogenetics. A standard fluorescence microscope equipped with only three filters is sufficient. Fluor-dUTPs and labeled probes can be custom made, thus dramatically reducing costs. Images can be prepared using imaging software (Adobe Photoshop) and analysis performed by simple visual inspection.
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PMID:Cryptic translocation identification in human and mouse using several telomeric multiplex fish (TM-FISH) strategies. 1130 67

New metabolic diseases are regularly identified by a genetic or biochemical approach. Indeed, the metabolic diseases result from an enzymatic block with accumulation of a metabolite upstream to the block and deficit of a metabolite downstream. The characterization of these abnormal metabolites by MRI spectroscopy permitted to identify the deficient enzyme in two new groups of diseases, creatine deficiencies and polyol anomalies. Creatine deficiency is implicated in unspecific mental retardation. A low peak of creatine at MRI spectroscopy is evocating of creatine deficiency which is treatable by creatine administration. Deficiency of synthesis of polyols, metabolites on the pentose pathway, represent new described metabolic diseases with variable symptoms including a neurological distress, liver disease, splenomegaly, cutis laxa and renal insufficiency. The deficit of ribose-5-phosphate isomerase, one of the enzymes whose diagnosis is evoked in front of the accumulation of ribitol, arabitol and xylitol leads to a leucodystrophy in adults. This new deficit was highlighted by the identification of an abnormal peak in cerebral MRI-spectroscopy corresponding to the abnormal accumulation of polyols in brain. Congenital hyperinsulinism (HI) is characterized by profound hypoglycaemia related to inappropriate insulin secretion. Focal and diffuse forms of hyperinsulinism share a similar clinical presentation but their treatment is dramatically different. Until recently, preoperative differential diagnosis was based on pancreatic venous sampling, an invasive and technically demanding technique. Positron emission tomography (PET) after injection of [18F]Fluoro-L-DOPA has been evaluated for the preoperative differentiation between focal and diffuse HI, by imaging uptake of radiotracer and the conversion of [18F]Fluoro-L-DOPA into dopamine by DOPA decarboxylase. PET with [18F]Fluoro-L-DOPA has been validated as a reliable test to differentiate diffuse and focal HI and is now a major differential diagnosis tool in infantile hyperinsulinemic hypoglycaemia.
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PMID:[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]. 1627 50

A 31 years old man with history of familial psychiatric disorder was investigated. Chromosomal analysis in peripheral lymphocyte blood culture showed normal karyotype with 46, XY chromosomal complement. However, the cells treated with 5-Fluoro-deoxy-uridine (FUdR) and Caffeine showed fragile Xq-27 (4.0%) and nonspecific autosomal breakages (42.0%). The present case suggests a probable association between chromosomal fragility and non-mental retardation psychopathology. Further cytogenetic studies in cases with familial psychiatric disorders will enable us with a better understanding of the pathogenesis and further help in counselling the families.
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PMID:FRAGILE Xq-27 ASSOCIATED WITH SCHIZOPHRENIA AND FAMILIAL PSYCHOSIS AN A MALE. 2192 11