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)

Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both trisomic for 12p(ter leads to 12.1) and monosomic for 21p. Their mother (No. 5), the maternal grandmother (No. 7), aunt (No. 8), and a first-cousin (No. 9) were balanced translocation carriers, 46 rep (12;21) (p12.1;p11). Another cousin (No. 10) had Down syndrome: he had two normal 21 chromosomes in addition to both translocation chromosomes. A sister (No. 2), who died at the age of 1 year without being karyotyped, had several phenotypical features in common with her brothers. Our two cases of trisomy 12p (ter leads to 12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; "spade"-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. An elevated serum lactate dehydrogenase (LDH) was measured in four cases.
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PMID:Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring. 14 83

A complex de novo translocation was found in leukocytes and fibroblasts from a boy with mental retardation and minor abnormalities. The 45,XY chromosome constitution found in all cells was initially interpreted from routine G- and Q-banding techniques as a balanced translocation of part of the short arm of 12 to the short arm of 15 and of the long arm of 21 to the short arm of 12. With additional staining techniques and use of prometaphase chromosome preparations, it was determined that the distal portion of band 12.3 of the short arm of chromosome 12 was missing from the 12/15 and the 12/21 translocation chromosomes. This interpretation was confirmed by a decreased concentration of the LDH-B subunit in lactate dehydrogenase isozymes of the patient's fibroblasts, consistent with his being hemizygous for the LDHB locus.
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PMID:Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB. 616 67

It was shown that a marked therapeutic effect or its absence in the piracetam and nootropil treatment of children with different degrees of mental retardation is largely determined by the presence in patients' metabolism (before treatment) of certain combined changes in the general activity of lactate dehydrogenase (LDH) and its isoenzymic spectrum with regard to the ratio between aerobic and anaerobic subunits. Experimental studies on rats support the necessity of taking into account patients' metabolism when prescribing nootropic agents. It is suggested that considering LDH changes (along with the clinical condition of patients) may be of prognostic significance in the efficacy assessment of treatment with nootropic drugs.
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PMID:[Effect of nootropic agents on serum biochemical indices in intellectually deficient children]. 668 4

A 14-year-old boy had myoglobinuria and renal failure after intense exercise; a year earlier he had experienced a milder episode. There was no consanguinity and no family history of neuromuscular diseases or hemolytic anemia. Strength was normal. Forearm ischemic exercise caused prolonged contracture with no rise of venous lactate. Muscle morphology showed only a mild increase of lipid droplets. Glycogen concentration was normal. Muscle phosphoglycerate kinase (PGK) activity was 5% of the normal mean, and all other glycolytic enzymes were normal. The residual PGK activity of muscle was heat stable but showed slower than normal electrophoretic mobility and decreased Michaelis constants for 3-phosphoglycerate and adenosine triphosphate. The enzyme defect was also expressed in erythrocytes and in fibroblast and muscle cultures. PGK activity was decreased in tissues from the patient's mother but normal in the father. PGK deficiency is an X-linked recessive trait usually associated with hemolytic anemia, mental retardation, and seizures; myopathy had not been recognized previously. Muscle PGK deficiency is now added to two other newly recognized glycolytic defects, phosphoglycerate mutase and lactate dehydrogenase deficiencies, as a cause of recurrent myoglobinuria.
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PMID:Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. 683 Jan 58

We studied a 3 year old girl with mental retardation and limb muscle weakness. The muscle glycogen content was 17.4 mg/g tissue, which was approximately three times higher than normal. There were no other known abnormalities noted in this child that could explain the cause of glycogen storage disease. Our in vitro glycolysis study showed marked increase of pyruvate, but no increase in lactate levels. The observed results suggested to us that an abnormal lactate dehydrogenase might account for the abnormal accumulation of glycogen in the muscle.
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PMID:Glycogen storage myopathy with abnormal lactate dehydrogenase. 695 32

Homocystinuria is an inherited metabolic disorder caused by severe deficiency of cystationine beta-synthase activity, resulting in the tissue accumulation of homocysteine (Hcy). Affected patients usually present many signs and symptoms such as seizures, mental retardation, atherosclerosis and stroke. The aim of this study is to evaluate in vivo and in vitro effects of Hcy using hippocampal slices from Wistar rats exposed to oxygen and glucose deprivation (OGD), followed by reoxygenation, an in vitro model of hypoxic-ischemic events. Neural cell injury was quantified by the measurement of lactate dehydrogenase (LDH) released from damaged cells into the extracellular fluid. The results showed that both in vivo and in vitro Hcy increased the LDH released to de incubation medium, suggesting an increase of tissue damage caused by OGD. This fact can be related with the high incidence of stroke in homocystinuric patients.
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PMID:Homocysteine increases neuronal damage in hippocampal slices receiving oxygen and glucose deprivation. 1710 28