SEARCH · Search PubMed

Results for “AMINO ACIDURIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources

PubMed1989

[Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions].

Hartnup disease is an inborn abnormality of renal and intestinal transport involving the neutral amino acids. Intermittent pellagra-like rash, attacks of cerebellar ataxia and psychiatric disturbance are characteristic symptoms of this disease. We described here a patient with adult-onset Hartnup disease who presented unique neuropsychiatric symptoms but no dermatologic symptoms, and reported features of amino acids transport in this patient and his family. The patient, a man aged 37 years, was referred to us because of lasting daytime bruxism. He is the second child of healthy parents who are first cousin; his elder brother who has been mentally retarded became bed-ridden and died at 32 years of age. His younger brother is completely healthy. Although the patient's development in infancy has been slightly retarded, he completed compulsory 9-year education. At 29 years of age, he experienced episodes of diplopia, ataxic gait and insomnia, and at 33 years of age, of transient stupor. There had been no history of photosensitivity or dermatitis. On neurological examination, there were trunkal ataxia, increased muscular tone and decreased mental activity besides bruxism. These symptoms remained unchanged despite of several medications including trihexyphenidyl, diazepam, halloperidol, tiapride and sulpiride. Two months later, the patient became stuporous; bruxism and hypertonicity became exaggerated. Myerson's sign, sucking reflex and grasp reflex in both hand appeared. There was no dermal lesion. A cranial computed tomography revealed a small calcification in the right frontal subcortical region and a single photon emission tomography indicated possible bifrontal hypoperfusion. Electroencephalograms demonstrated non-specific slowing. Somatosensory evoked potentials and nerve conduction velocities were normal. There were constant indicanuria and amino-aciduria.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1983

Cutis verticis gyrata with metabolic abnormalities.

An adult Black South African man with forme fruste pachydermoperiostosis is described. The patient had cutis verticis gyrata, hyperhidrosis, sebaceous plugging and an acneform rash. Basal and dynamic endocrine studies revealed that the hypothalamic, pituitary, thyroid, adrenal, gonadal axes and growth hormone secretion were all normal, but urinary excretion of 17-hydroxy-and corticosteroids, and the prolactin response to thyrotropin-releasing hormone were depressed. Urinary levels of asparagine were markedly elevated and serum levels were subnormal indicating a possible renal leak of this amino acid; glutamic acid and ornithine were present in smaller quantities in the urine. All other tests of proximal and distal renal tubular function were normal. There is no evidence from our studies to suggest a hormonal basis for pachydermoperiostosis. The amino aciduria may be a chance association of, or an (additional) occasional manifestation of the syndrome.

Adult↗

PubMed2004

[Present opinions on use of ketoanalog essential aminoacids in a conservative treatment of chronic renal insufficiency].

Conservative treatment implies procedures which involve normalization or improvement of metabolic disorders in chronic renal insufficiency and failure by medicamentous and dietary means. Keto amino acids administration can remarkable influence protein synthesis, metabolic acidosis, Ca-P and PTH levels, carbohydrate and lipid disorders, but has no effect on hyperfiltration. Long-term co-administration of rHuEPO and keto amino acids in CRF patients on LPD has accelerated metabolic effect associated with a delay in progression of renal failure and reduction of proteinuria. Also, concomitant administration of ACE inhibitors and angiotensin II AT1 receptor antagonist in CRF patients on LPD with KA was associated with significant decrease of proteinuria, amino-aciduria and, via its glomerulo-tubular action, it had also an effect on progression of CRF.

Amino Acids, Essential↗

PubMed1984

Renal tubular disturbances induced by tributyl-tin oxide in guinea pigs: a secondary Fanconi syndrome.

Painting of tributyl-tin oxide on the skin induced a secondary Fanconi syndrome in guinea pigs. In the urine of these animals, excretion of sodium, chloride, phosphate, glucose and many kinds of amino acids increased and reached a maximum between day 40 and 50. In sera, the concentrations of phosphate and certain amino acids were low due to excessive loss into urine. Histological examination of the kidney revealed damage to the tubular epithelium with no glomerular change. It was also found that cytochrome P-450 in the kidney and 1-25-dihydroxy vitamin D in serum were reduced in the tin-treated animals. It is most likely that tributyl-tin oxide caused a secondary Fanconi syndrome as defined by renal tubular disturbances represented by glucosuria, generalized amino aciduria, phosphaturia, and hypophosphatemia.

Administration, Topical↗

PubMed1986

Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndrome.

A case of interstitial deletion of the long arm of chromosome 8 is reported. A chromosome analysis by a high resolution banding revealed the abnormal karyotype, 46, XY, del (8) (q11.2q13). Although some reports describe an association of 8q deletion with the Langer-Giedion syndrome, this patient did not have the typical features of this syndrome. It was noted that the patient had amino aciduria, EEG and ECG abnormalities together with other pathological findings.

Adolescent↗

PubMedDate not supplied

Urinary excretion of amino acids in normal and cystinuric dogs.

The 24-h urine excretion of 20 amino acids was investigated in 24 cystinuric and 15 normal dogs. The diagnosis of cystinuria was based on infrared spectroscopy of removed uroliths, which in all cases were composed of pure cystine. Seven of 24 cystinuric dogs showed normal cystine excretion compared to normal dogs, and four of 24 dogs showed normal total amino acid excretion. In contrast to earlier investigations, almost half of the cystinuric dogs (46%) showed elevated excretion of five or more amino acids. Isolated cystinuria, or isolated dibasic amino aciduria was not found. Compared to normal dogs, the cystinuric dogs showed a significantly (P < 0.05) increased excretion of cystine, arginine, lysine, cystathionine, glutamic acid, threonine and glutamine. There was a significant correlation (P < 0.05) between the urinary excretion of cystine and 10 other amino acids, with the highest correlation found (P < 0.001) for arginine, lysine, cystathionine, ornithine and 1-methyl-histidine. Three patterns of amino acid excretion could be identified: (1) increased excretion and a significant correlation with cystine for the three dibasic amino acids (lysine, arginine and ornithine), compatible with a common reabsorption mechanism as shown in man. This pattern was also found for cystathionine and glutamic acid, which might indicate a relation in metabolism or transport; (2) increased excretion but no correlation with cystine for glutamine, threonine and citrulline; (3) good correlation with cystine, but no increased excretion for 1-methyl-histidine, phenylalanine, 3-methyl-histidine, leucine and alanine. The great variation in urinary cystine excretion suggests that factors other than the excretion of cystine must be considered as causes of cystine urolith formation. For example, cystinuric dogs were found to have lower diuresis than normal dogs and produced urine with higher cystine concentration thereby increasing the risk of cystine urolith formation.

Amino Acids↗

PubMed1976

[Epilepsies in childhood: differential diagnosis of their forms and courses (author's transl)].

Childhood epilepsies (not including the first 2 years of life) are outlined and discussed; particular emphasis is laid upon the variety of certain forms of epileptic conditions and their clinical course. These forms are divided as follows: a) The Lennox-Gastaut syndrome: a poly-etiological condition with distinct clinical-ictal and electroencephalographic characteristics, mostly associated with mental defects and prognostically unfavorable. b) "Common generalized epilepsy" (also called "centrencephalic" epilepsy), characterized by petit mal absences or a combination of petit mal and grand mal and with a predominantly favorable prognosis. c)Childhood epilepsies with focal spikes in the EEG, in most cases a very benign form with an excellent prognosis. These 3 forms of seizure disorders may be divided in subgroups. The distinction of fine diagnostic nuances is quite helpful but requires well integrated epileptological and EEG experience. The special role of temporal lobe epilepsy is briefly discussed. Furthermore, several etiologies of childhood etiologies are singled out such as inborn errors of metabolism (lipidoses, amino-acidurias), essential hereditary myoclonus epilepsy, tuberous sclerosis, Sturg-Weber's disease, encephalitis, brain tumor and brain abscess. The fringe of the seizure ("borderland of epilepsy") is briefly delineated.

Adolescent↗

PubMed1979

Nephrotoxicity of paraquat in man.

Renal function studies were performed in three cases of paraquat poisoning. Acute renal failure was observed in all three cases. Glomerular filtration rate improved for two patients who survived three weeks, illustrating the reversible nature of paraquat-induced acute renal failure. A mild to moderate transient proteinuria was observed during the first and second weeks following paraquat ingestion. Renal glucosuria, marked amino aciduria, and increased fractional excretion of phosphorus, sodium, and uric acid were observed. These findings, which have not been previously described in man, are indicative of proximal tubular dysfunction and parallel observations previously made in experimental animals.

Acute Kidney Injury↗

PubMedDate not supplied

Preventive effects of nickel on cadmium hepatotoxicity and nephrotoxicity.

The effect of nickel on cadmium nephro-toxicity and hepato-toxicity in rats was investigated. The administration of nickel (6 mg per kg, i.p., three days) or cadmium (6 mg per kg, i.m., once) significantly enhanced the urinary excretion of alkaline phosphatase (ALP), lactate dehydrogenase (LDH), glutamate oxaloacetate transaminase (GOT), amino acids, and proteins. In addition, it increased the activity of serum ALP, GOT, and glutamate pyruvate transaminase (GPT). These biochemical alterations in urine and serum were used as a measure of kidney and liver damage. Cadmium-induced enzymuria, proteinuria, amino aciduria and increase in the activity of serum enzymes were significantly less marked in animals pretreated with nickel than in controls. However, the accumulation of cadmium in kidneys and liver and its urinary excretion were unaffected by nickel pretreatment. The results suggest protection by nickel against cadmium nephro- and hepato-toxicity.

Alanine Transaminase↗

PubMed1988

Renal tubular function in patients treated with high-dose cisplatin.

The effect of three cycles of high-dose cisplatin (40 mg/m2 day for 5 days) on renal tubular function was evaluated in 30 patients. A significant impairment of proximal tubular salt and water reabsorption rates was observed, but also distal tubular function seemed to be affected. These changes were also present 6 months after termination of treatment. Sodium and magnesium clearance increased significantly during treatment. Magnesium clearance normalized shortly after treatment but sodium clearance was significantly elevated 6 months after treatment. Proteinuria, albuminuria, and amino aciduria, together with an increase of beta 2-microglobulin and N-acetyl-beta-D-glucosaminidase (NAG) excretion rates, were observed during each treatment cycle. A good correlation was registered between the increase in urinary excretion rates of protein, NAG, and magnesium and the decrease in proximal tubular salt and water reabsorption during cisplatin administration.

Acetylglucosaminidase↗

PubMed1995

The nephropathy of type I tyrosinemia after liver transplantation.

Type I tyrosinemia (HTI) is an autosomally recessively inherited disease caused by deficiency of fumarylacetoacetate hydrolase. The disease manifests with liver failure, renal tubular defects, and neurologic crises. Currently orthotopic liver transplantation (OLT) enables patients to survive. However, renal fumarylacetoacetate hydrolase deficiency is not corrected by OLT, and the long-term prognosis of the nephropathy is not known. We investigated tyrosine metabolism, GFR, renal tubular function, and histopathology before and 18-36 mo after OLT in eight patients with HTI. Progressive renal dysfunction was not documented despite continuing, although diminished, urinary succinylacetone excretion in all patients. The mean GFR was 82 mL/min/1.73 m2 before and 102 mL at 18 mo and 93 mL at 36 mo after OLT. All patients showed tubular dysfunction before OLT. At 18 mo, glucosuria occurred in one, amino aciduria and phosphaturia in three, and hypercalciuria in six patients. Only hypercalciuria was seen at 36 mo. Renal biopsies showed mild nonspecific changes caused either by minimal progression of the renal disease or by mild cyclosporine nephrotoxicity. In conclusion, patients with HTI had normal GFR, but showed signs of tubular dysfunction 18-36 mo after OLT. Renal function and histopathology should be monitored after OLT for HTI.

Amino Acid Metabolism, Inborn Errors↗

PubMed2005

Metabonomic deconvolution of embedded toxicity: application to thioacetamide hepato- and nephrotoxicity.

We present here the potential of an integrated metabonomic strategy to deconvolute the biofluid metabolic signatures in experimental animals following multiple organ toxicities, using the well-known hepato- and nephrotoxin, thioacetamide. Male Han-Wistar rats were dosed with thioacetamide (150 mg/kg, n = 25), and urine, plasma, liver, and kidney samples were collected postdose for conventional NMR and magic angle spinning (MAS) NMR spectroscopy. These data were correlated with histopathology and plasma clinical chemistry collected at all time points. 1H MAS NMR data from liver and kidney were related to sequential 1H NMR measurements in urine and plasma using pattern recognition methods. One-dimensional 1H NMR spectra were data-reduced and analyzed using principal components analysis (PCA) to show the time-dependent biochemical variations induced by thioacetamide toxicity. From the eigenvector loadings of the PCA, those regions of the 1H NMR spectra, and hence the combinations of endogenous metabolites marking the main phase of the toxic episode, were identified. The thioacetamide-induced biochemical manifestations included a renal and hepatic lipidosis accompanied by hypolipidaemia; increased urinary excretion of taurine and creatine concomitant with elevated creatine in liver, kidney, and plasma; a shift in energy metabolism characterized by depleted liver glucose and glycogen; reduced urinary excretion of tricarboxylic acid cycle intermediates and raised plasma ketone bodies; increased levels of tissue and plasma amino acids leading to amino aciduria verifying necrosis-enhanced protein degradation and renal dysfunction; and elevated hepatic and urinary bile acids indicating secondary damage to the biliary system. This integrated metabonomic approach has been able to identify the tissue of origin for biomarkers present in the metabolic profiles of biofluids, following the onset and progression of a multiorgan pathology, and as such highlights its potential in the evaluation of embedded toxicity in novel drug candidates.

Amino Acids↗

PubMed1989

Biochemical characterisation of para-aminophenol-induced nephrotoxic lesions in the F344 rat.

The acute biochemical effects of the nephrotoxin p-aminophenol (PAP) were studied in detail using a combination of conventional bioanalytical and 1H-NMR spectroscopic methods. Dosing PAP (25-100 mg/kg) to male F344 rats resulted in a dose-related proximal nephropathy with consequent elevations in urinary enzymes, glucose, and urine total protein as shown by conventional methodology. 1H-NMR spectroscopy at 400 MHz of urine from PAP-treated rats also revealed a characteristic glycosuria, with concomitant amino aciduria. The increased excretion of these compounds indicates functional defects in the proximal tubule and reduced solute reabsorption efficiency. In addition, 1H-NMR urinalysis and conventional enzymatic analysis showed a dose-related lactic aciduria. Other changes detected by 1H-NMR included a dose-related reduction in the excretion of citrate (confirmed by a conventional biochemical method) and an increase in the excretion of acetate. The degree of abnormalities shown by 1H-NMR urinalysis agreed well with histopathological observations and conventional biochemical indices of nephrotoxicity. 1H-NMR urinalysis therefore serves to highlight changes in the excretion of low MW urine components not routinely studied by conventional biochemical analysis.

Amino Acids↗

PubMed1978

Experimental cystinuria: the cycloleucine model. II. Amino acid efflux from intestinal and renal tissues.

Loading and unloading experiments using intestinal sacs and renal cortex slices were undertaken to ascertain the role of amino acid efflux in cycloleucine-induced amino-aciduria. The presence of cycloleucine, lysine, or valine on the luminal or antiluminal side of the intestine caused an increased leakage of [14C] cycloleucine, [14C] lysine, and [35S] cystine from the tissue. Similar results were obtained when using kidney cortex slices, except for cystine efflux. The latter phenomenon was inhibited by cycloleucine and lysine. Data, also obtained with renal cortex slices, suggest that cystine and cysteine are recognized by different transport sites although one (the oxidized form) may be typically extracellular and the other (the reduced form), intracellular. A comparison of these data with previous works done in our laboratory shows that cycloleucine affects efflux less than influx and further suggests that in rats given cycloleucine, renal transport is impaired only at the brush border level for cystine and at both luminal and antiluminal membranes for dibasic amino acids.

Amino Acids↗

PubMed2001

Heterodimeric amino acid transporters: molecular biology and pathological and pharmacological relevance.

In the last decade, a lot of amino acid transporters were identified by molecular cloning and assigned to the classically characterized amino acid transport systems. Among them, ones which belong to the heterodimeric amino acid transporter family are unique because of their broad substrate selectivity and their pathological implications as well as their structural features. The heterodimeric amino acid transporter family is a subfamily of SLC7 solute transporter family which includes 14-transmembrane cationic amino acid transporters as well as 12-transmembrane heterodimeric amino acid transporters. The members of heterodimeric amino acid transporter family are linked via a disulfide bond to single membrane spanning type II membrane glycoproteins such as 4F2hc (4F2 heavy chain) and rBAT (related to b(0,+)-amino acid transporter). Six members are associated with 4F2hc and one is linked to rBAT. The neutral amino acid transporter of this family seems to rely on the hydrophobic interactions for their substrate recognition which can explain their broad substrate selectivity. Because of this characteristic, they can permeate amino-acid-related drugs and contribute to the pharmacokinetics of these drugs. A neutral amino acid transporter LAT1 (L-type amino acid transporter 1) has actually been shown to be present at the blood-brain-barrier. Because the members of the heterodimeric amino acid transporter family exhibit variety of substrate selectivity, it is proposed that this family members have been diverged from the prototype neutral amino acid transporter such as LAT1 by acquiring the mechanisms for the recognition of electric charges on the substrate amino acid side chains. The dysfunction or hyperfunction of the members of the heterodimeric amino acid transporter family are involved in some diseases and pathologic conditions. The genetic defects of the renal and intestinal transporters BAT1/b(0,+) AT (b(0,+)-type amino acid transporter 1/b(0,+)-type amino acid transporter) and y+ LAT1 (y+ L-type amino acid transporter 1) result in the amino aciduria with sever clinical symptoms such as cystinuria and lysinuric protein intolerance, respectively. LAT1 is proposed to be involved in the progression of malignant tumor. xCT (x- C-type transporter) functions to protect cells against oxidative stress, while its over-function may be damaging neurons leading to the exacerbation of brain damage after, brain ischemia. Therefore, these transporters would be candidates for therapeutic targets based on new strategies. Through the interaction with the associating proteins, the transporters of this family would be endowed with more possibility to be regulated via intracellular and extracellular signalling pathways, which is critical to tune the transporter functions to meet the metabolic requirements of cells.

Amino Acid Transport Systems↗

PubMed1970

[Metabolic disorders in epilepsy of early childhood].

Metabolic disorders are discussed which are associated with the pathophysiological mechanisms of the origin of convulsions. Homeostasis impairment, e. g. hyponatremia, hypo- and hyperkalemia, hypocalcemia is mentioned, as well as vitamin deficiencies, such as pyridoxin deficiency, and the problem of phenylketonuria is discussed in connection with aminoacid disorders. Possible connections between aminoacid disorders and BNS, occurring in 8.1% of 1,688 children treated for epilepsy at the neurological department of the Brno Faculty Children's Hospital, are further discussed. Results of screening for amino-aciduria (according to Berry's method) were negative in 3000 healthy infants, whereas careful investigation resulted in pathologic aminoaciduria in 17 out of 20 children with BNS. Also results of hormonal treatment in children with this sort of convulsions are reported. It is concluded that early therapy, even though incapable of influencing neurological abnormities, suppresses convulsions and may lead to the disappearance of hypsarythmia from the EEG curve. A benign influence upon mental development was observed in a small group of children in whom therapy had been initiated very early. It is emphasized that this, by no means indifferent, type of therapy should only be performed in a well equipped and managed pediatric department.

Amino Acid Metabolism, Inborn Errors↗

PubMed1982

Effect of in vivo administration of parathyroid hormone on amino acid transport in membrane vesicles prepared from rabbit kidney tubules.

It has been postulated that high concentrations of parathyroid hormone might increase transport of amino acids across basal lateral membrane into the cell and that the amino-aciduria seen in hyperparathyroidism occurs because of leakage across brush border membrane into the lumen. Accordingly, we separated plasma membranes from renal proximal convoluted tubules into basal lateral and brush border fractions, both of which form vesicles. We found that for the vesicles from rabbits pretreated with parathyroid hormone, 14C-L-alanine incorporation was indeed enhanced in the basal lateral fraction, but not in the brush border fraction. Nor was significant enhancement found for vesicles from rabbits pretreated with cycloheximide in addition to hormone. We conclude that L-alanine uptake is greatest in the basal lateral membrane fraction after parathyroid hormone treatment in vivo. In such case, the two membranes also differ from each other in endocrine response.

Amino Acids↗

PubMed2000

Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.

UNLABELLED: Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria. BACKGROUND: Cystinuria is an inheritable amino aciduria and has been classified into three subtypes: I, II, and III. One of the genes responsible for cystinuria has recently been identified as SLC3A1 or rBAT, but only type I cystinuria seems to be caused by genetic alterations in rBAT. To our knowledge, thus far 38 mutations in rBAT gene have been described. In this study, we investigated rBAT mutations in Japanese patients and compared the results with the previously reported mutations in other races. METHODS: We investigated 36 Japanese cystinuria patients by mutational analysis of rBAT gene. To identify newly mutated alleles, genomic DNA was analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). When an abnormal migration was observed on SSCP, a nucleotide sequence determination was performed. RESULTS: Five novel mutations were identified in five patients, three with missense mutations (L346P, I445T, C673R), one with a 1 bp deletion (1820delT), and one with a 2 bp insertion (1898insTA), and we detected three previously reported polymorphisms. Three of the mutations were homozygous, in whom parents had intermarried, and two were heterozygous for each mutations. Analysis of rBAT in family of the 1898insTA patient revealed that the patient had inherited the mutated allele from his parents. CONCLUSION: Five novel mutations in the rBAT gene have been identified in Japanese patients with cystinuria. A racial difference was not apparent in the position and frequency of the mutations.

Amino Acid Transport Systems, Basic↗