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

A simple one-vial-method was developed for the quantitative determination of sphingomyelinase activity in human leukocytes and urine, using [14C-methyl] sphingomyelin. The measured activities of healthy control persons show a higher scatter in (n=50) urine (1.2 +/- 0.5 nmol/h . ml urine) than in (n=9) leukocytes (2.15 +/- 0.35 nmol/h . mg protein). Long term tests showed that the enzyme activities in urine can best be correlated to the 24-h-creatinine excretion. A distinct loss of enzyme activity was found in dialyzed urine starting at about the third day; this did not occur in undialyzed urine. The method also shows good reproducibility in micro-tests. It is therefore suitable for screening tests (urine of persons suffering from Niemann Pick disease) and for the prenatal diagnosis of sphingomyelinosis. For one out of two children with symptoms of sphingomyelinosis (hepatosplenomegaly, mental retardation, and neurological deterioration) the diagnosis was confirmed by morphological examination of tissues obtained by biopsy. In both cases leukocytes and urine revealed normal sphingomyelinase activity. These biochemical results in conjunction with the clinical and morphological picture were indicative of type C Niemann-Pick disease.
 ...
PMID:An improved and simple micro-method of sphingomyelinase assay in leukocytes and urine. 21 Nov 76

A new congenital ichthyotic syndrome inherited as an autosomal recessive is described in three propositi of an Iranian family. The main clinical features are non-bullous congenital ichthyosis, mental retardation, dwarfism, and renal impairment. The nephropathy which previously has not been associated with congenital ichthyosis was manifested by raised blood urea nitrogen and creatinine levels, and a reduced creatinine clearance. The clinical and genetic features of this syndrome are discussed in relationship to the other congenital ichthyotic syndromes.
 ...
PMID:Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome. 114 23

An unusual association of Bardet-Biedl syndrome with cystinuria was described in one patient. A 21-year-old male was admitted to hospital because of renal failure, severe deterioration of visual acuity, polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum creatinine of 292 mumol/L (3.3 mg/dL) and a GFR of 25 mL/min per 1.73 m2. Quantitative ion exchange chromatography demonstrated an increased urinary excretion rate of cystine, lysine, arginine, and ornithine. The ophthalmologic examination showed a severe atypical retinal dystrophy. Visual acuity was severely deteriorated and the patient could only count the examining physician's fingers. The patient had been previously evaluated at the age of 7 years for polyuria, polydipsia, and growth failure. His workup at that time demonstrated nephrogenic diabetes insipidus, normal GFR, and a urinary amino acid pattern consistent with the cystinuric phenotype. There was mental retardation notwithstanding the normal ophthalmologic examination. Intravenous pyelography showed calyceal clubbing, calyceal cysts, and lobulated renal outlines of the fetal type. The patient was evaluated again at the age of 13 years for deterioration of visual acuity and the ophthalmologic examination showed an atypical retinal dystrophy, with sparse pigmentation, central and peripheral atrophy, attenuated vessels, and marked optic disk pallor. To our knowledge the association of Bardet-Biedl syndrome with cystinuria has never been reported. It is unlikely that cystinuria may have contributed to the kidney damage. The possibility that mental retardation has been induced or aggravated by cystinuria cannot be excluded.
 ...
PMID:Bardet-Biedl syndrome and cystinuria. 146 12

Screening urine for inherited and acquired organic acidurias in newborns has the potential of preventing severe disease, mental retardation, and death. A method for screening dried urine filter paper samples for acidic markers of at least 20 different metabolic conditions has been developed. These conditions include, among others, maple syrup urine disease; methylmalonic, propionic, isovaleric, glutaric, and hydroxymethylglutaric acidurias; methylcrotonylglycinuria; medium-chain acyl-CoA dehydrogenase deficiency; inherited vitamin responsive disorders B12, biotin, B2), and acquired deficiencies of these vitamins. The preparation of the urine extract is identical to the method we use to screen infants for neuroblastoma. Screening is based on a highly sensitive and specific determination of eight organic acid markers by an automated computerized gas chromatography mass spectrometry system using selected ion monitoring. The markers used for screening are methylmalonic acid, 2-hydroxyisocaproic acid, glutaric acid, propionylglycine, isovalerylglycine, 3-methylcrotonylglycine, hexanoylglycine, and 3-phenylpropionylglycine. The extraction efficiencies of these acids from dried filter paper were similar to extraction from water, ranging from about 40% to 80%, except for propionylglycine which showed a low extraction efficiency of 11-13%. The stability of these acids on filter paper exposed to room air and temperature over a period of 15 d was adequate for the use of this collection method for organic aciduria screening. Normal levels, adjusted to urinary creatinine, were established for these acids in 519 urine filter paper samples obtained from 3-wk-old newborns. This screening method was tested on samples obtained from 12 patients with known organic acidurias including stored urine filter paper collected at 3-wk of age from two infants later found to have organic acidurias.
 ...
PMID:Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development. 195 13

The fate of tuberous sclerosis (TS) patients after renal transplantation (RT) for end-stage renal failure remains to be defined. We report three patients with a posttransplantation follow-up averaging 54 months and review 6 previously published cases. Three women, aged 27-46 years, received a cadaver kidney 26-67 months after starting dialysis. None had mental retardation, 2 had suffered from seizures during infancy and 2 had intracranial calcification; neurological involvement was equally mild in the 6 reported patients. Currently, 16-84 months after RT, our 3 patients are fully rehabilitated with a well-functioning graft (serum creatinine 1.2-1.7 mg/dl). Results of RT are also satisfactory in the 4 other reported cases for whom a follow-up is available, except for 1 death unrelated to the initial disease. Neurologic disorders did not progress. Renal cell carcinoma was discovered in one removed kidney, and cells suggestive of malignant transformation in another case. No metastases were discovered up to 4 years later. No neoplastic transformation was observed up to 7 years after RT in the 3 patients who retained their native kidneys. TS patients with end-stage renal failure are good candidates for RT. The probably small risk of neoplastic transformation of native kidneys warrants a close monitoring by CT scan of the few patients who have not undergone bilateral nephrectomy.
 ...
PMID:Outcome of patients with tuberous sclerosis after renal transplantation. 231 13

To determine the nature, extent, and severity of renal involvement in Laurence-Moon-Biedl syndrome (obesity, mental retardation, polydactyly, hypogonadism, and pigmented retinal dystrophy), we evaluated 20 of 30 patients with the disorder identified from ophthalmologic records in Newfoundland. The mean age was 31 years, and seven were male. All 20 patients had structural or functional abnormalities of the kidneys or both. Three had end-stage renal disease, with two requiring maintenance hemodialysis. The remaining 17 patients had normal serum creatinine values and estimated creatinine clearances. Half the subjects had hypertension. Fourteen of 17 patients could not concentrate urine above 750 mOsm per kilogram of body weight even after vasopressin, whereas all 10 normal controls could. Urinary pH decreased below 5.3 after ammonium chloride administration in all 15 normal controls, but in only 13 of 18 patients. Calyceal clubbing or blunting was evident in 18 of 19 patients studied by intravenous pyelography; 13 patients had calyceal cysts or diverticula. Seventeen of 19 patients had lobulated renal outlines of the fetal type. Four patients had diffuse renal cortical loss, but only two of these had renal insufficiency. We conclude that Laurence-Moon-Biedl syndrome includes the presence of renal abnormalities.
 ...
PMID:The spectrum of renal disease in Laurence-Moon-Biedl syndrome. 341 78

Two sisters with similar clinical features are described. Their clinical manifestations include mental retardation, delayed speech development, low percentiles for height, weight and head circumference, dysmorphic ears, cubitus valgus, pseudoclubbing of fingers, flexion deformity of toes, small kidneys, elevated serum creatinine and blood urea nitrogen (BUN). High resolution chromosome analysis revealed a complete deletion of 16qh with a concurrent small deletion of the adjacent euchromatic segment 16q12.1 in one of the no. 16 chromosomes of both sisters, whereas the parents had normal no. 16 chromosomes. Length polymorphism of the 16qh regions appeared to indicate a maternal origin of the deleted no. 16 chromosome in both sisters. The clinical features of both sisters were attributed to the 16q12.1 deletion. Since both parents were cytogenetically normal, the two sisters were considered as a recurrence of a similar de novo interstitial deletion. Possible mechanisms which could lead to recurrence of a seemingly de novo event are discussed.
 ...
PMID:Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. 399 93

Sarcosinemia has been detected by routine screening of urine for metabolic and transport disorders in Massachusetts. Three infants who had sarcosinemia were detected through the neonatal urine specimen, an observed incidence of 1:350,000. A fourth child had sarcosinemia detected through family screening after his brother was found to have Hartnup disease by neonatal urine screening. These four children with sarcosinemia have plasma sarcosine concentrations ranging from 80 to 603 mumol/L and urine sarcosine from 2.1 to 9.4 mumol/mg of creatinine, findings similar to those reported for persons with sarcosinemia. No treatment has been given. At 3.8 to 15 years of age, the children had normal findings on physical examination and had no specific illnesses. Their full-scale IQ scores ranged from 89 to 111. The oldest child had a learning and emotional disorder, and one other child was emotionally unstable. It was concluded that sarcosinemia as a specific disorder is probably benign and that the mental retardation and dysmorphic features described in some affected persons are likely coincidental with the biochemical defect. The emotional disturbances that were encountered in two children are also probably coincidental but need further attention in this disorder.
 ...
PMID:Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. 620 80

A now 33-year-old woman first had psychomotor seizures at the age of 3 years. At 9 years tuberous sclerosis (Bourneville-Pringle disease) was diagnosed, on the basis of sebaceous adenoma, white spots of the skin and periventricular cerebral calcifications. Later she developed hyperostoses of the cranium and two periungual fibromas. When aged 23 years she was first noted to have borderline hypertension (145/95 mmHg) and signs of renal insufficiency which, over the subsequent 10 years, gradually worsened: computed tomography and magnetic resonance imaging demonstrated angiolipomas and cysts. Haemodialysis became necessary when serum creatinine level had risen to 9.0 mg/dl, creatinine clearance to 8 ml/min, with proteinuria of 2660 mg/24 h and metabolic acidosis (pH 7.17, base excess -8.1 mmol). She had no mental retardation nor other neurological deficits and is scheduled to have renal transplantation. There were no hamartomas in other organs.
 ...
PMID:[Terminal kidney insufficiency in tuberous sclerosis]. 775 11

A 49-year-old female with mental retardation was admitted with suspected renal insufficiency with a raised creatinine (5.1 mg/dl), hyperkalaemia (5.6 mmol/l), and a 12-hour history of diffuse abdominal pain and persistent vomiting. On admission, she had a haematoma around the right shoulder and arm-pit, swelling of the right upper-arm, and severe limitation of movement of the right hand. These injuries were the result of trauma some 5 days previously. She was a long-term inpatient in a psychiatric clinic, with a history of autoaggressive behaviour, which had led to several fractures in the past as a result of falls. The creatinine kinase was elevated to 6680 U/l. The suspected diagnosis of acute oliguric renal failure due to rhabdomyolysis was confirmed by the presence of marked myoglobinuria (409 ng/ml). Because of the delay in diagnosis, acute renal failure developed, and the patient required haemodialysis for 20 days. Because of their many predisposing factors, psychiatric patients represent a special risk group for development of rhabdomyolysis, recognition of which is often delayed.
 ...
PMID:[Acute myoglobinuric kidney failure as a consequence of autoaggressive behavior in mental retardation]. 803 54


1 2 3 4 5 Next >>