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At least 361 records · Page 20Linked to original sources
PubMed1996

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Prenatal testing of 12 pregnancies at risk for argininosuccinic aciduria due to argininosuccinate lyase (ASAL) deficiency and three pregnancies at risk for citrullinaemia due to argininosuccinate synthatase (ASAS) deficiency was performed by metabolite detection in amniotic fluid and measurement of enzyme activity in uncultured and cultured chorionic tissue and in cultured amniocytes. From our data and those of previous studies, amniotic fluid argininosuccinate measurement alone is clearly a reliable and rapid diagnostic test for both severe and mild ASAL deficiency if maternal ASAL deficiency can be excluded. For prenatal diagnosis of ASAS deficiency, however, both measurement of the amniotic fluid citrulline level and enzyme assay should be employed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance.

The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.

Arginine↗
PubMed1982

Renal transport of lysine and arginine in lysinuric protein intolerance.

In a patient with lysinuric protein intolerance, renal handling of lysine and arginine was examined to study the renal transport mechanism of this disease. The tubular reabsorption of lysine or arginine of the patient, when the filtered load of amino acid was increased by intravenous infusion, was not raised as much as that of control subjects at low filtered loads, but the ability for amino acid reabsorption seemed to exist under these conditions. However, when the filtered load was greatly increased, instead of a net reabsorption, a net secretion of amino acid was obtained. This seems to mean that at low filtered loads the amino acid in the tubular lumen is accumulated by the tubular cell across the intact luminal membrane, leading to a small amino acid excretion in the urine. With a great increase of the filtered load the saturated intracellular amino acid, which is not transported to the capillary because of a transport defect of the basolateral membrane, is assumed to leak back into the lumen. This causes a marked urinary amino acid loss exceeding filtered load at high tubular loads. The intravenous load of lysine depressed the percentage of arginine reabsorption and arginine load depressed lysine reabsorption. The percentage of the depressed amino acid reabsorption of the patient decreased almost linearly with increases of the inhibitor load.

Adolescent↗
PubMed1996

Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria.

Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital encephalopathy with marked hypertonia resembling the stiff-baby syndrome, delayed milestones, mental deficiency and congenital deafness. Rare, usually reversible, episodes of sudden worsening of the neurological status, with progressive loss of consciousness and increase of hypertonia, occurred spontaneously or during febrile illnesses. During these periods, and sometimes on other occasions, transitory renal dysfunction was observed (nephrotic syndrome and/or tubular abnormalities). Death occurred before age 2 years in 4 patients; 2 are still alive (10 and 13 years old). Electrophysiological, biological and enzymatic investigations remained negative, particularly those concerning mitochondrial and peroxisomal metabolism. The only biochemical anomaly was a massive hyperkynureninuria, seen only during the periods of coma (up to 213 mumol/mmol creatinine; normal < 10) and after an intravenous protein loading test. This suggests an anomaly of tryptophan metabolism which has not been reported up to now.

Algeria↗
PubMed1983

Abnormal amino acid concentrations in plasma and urine of experimentally diabetic dogs.

Free amino acid concentrations have been determined in plasma and urine of nonketotic, severely diabetic dogs and age-matched normal controls. Plasma from fasted (as well as fed) diabetics contained supranormal concentrations of several amino acids, including the branched-chain amino acids. In contrast to other species, however, the concentration of only one plasma amino acid (tryptophan) was subnormal in fasted diabetic dogs. Urine collected at the same time showed that the excretion of most amino acids was not abnormal in diabetes. Urinary concentrations of some amino acids were not abnormal despite supranormal levels in plasma. Nevertheless, eight of the 21 amino acids studied reached concentrations significantly greater than normal in the urine of diabetic dogs. Six of the eight amino acids (arginine, histidine, phenylalanine, tyrosine, tryptophan, glutamic acid) showed elevated concentrations in urine even though their plasma concentrations were not elevated. The observed disturbance in the urine/plasma ratio of certain amino acids suggests a possible defect in the renal handling of amino acids in diabetes.

Amino Acids↗
PubMed1993

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

We report a patient with a clinical picture consisting of small birth weight, connatal hypoplastic anaemia, vacuolised bone marrow precursors, failure to thrive, and, subsequently, by insulin-dependent diabetes, renal Fanconi syndrome, lactic acidosis, complex organic aciduria, and elevation of haemoglobin F and of adenosine deaminase activity. The clinical course was progressive and death occurred at age 19 months. A high proportion of mitochondrial (mt) DNA molecules with a deletion of nucleotides 9238 to 15575 were identified in several tissues; about half of the shortened mtDNA molecules were concatenated to form circular dimers. The clinical and laboratory findings support recent conclusions that Pearson syndrome is not confined to bone marrow and pancreas, as originally described, but is a multi-organ disorder associated with deletions in part of the mtDNA molecules. The tissue distribution and the relative proportions of the abnormal mtDNA molecules apparently determine the phenotype and clinical course.

Acidosis, Lactic↗
PubMed1979

The aminogram of the urine produced by the preserved kidney.

The function of autogenous canine kidneys may be considered even after successful preservation and reperfusion to be pathological for about 3 to 4 days, since a condition characterized by proteinuria and increased amino aciduria exists for a while.

Amino Acids↗
PubMed1980

Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.

Unlike normal human cells, cultured fibroblasts from patients with argininosuccinic aciduria cannot synthesize arginine from citrulline because they have a deficiency of argininosuccinic acid lyase (ASL). We have found that V79, a Chinese hamster cell line, cannot grow on citrulline. Although these cells show a normal uptake of citrulline and have levels of ASL comparable to a human cell line (HeLa) which can grow in citrulline-containing medium, V79 cells have less than 5% of the argininosuccinic acid synthetase (ASS) activity of HeLa and cannot convert citrulline to argininosuccinate and thence to arginine. When heterokaryocytes are formed between V79 and a human cell line derived from a patient with ASL deficiency, complementation takes place and citrulline is incorporated into cell protein, presumably after having been converted to arginine. This is the first time that a genetic defect of the urea cycle has been corrected in human cells.

Animals↗
PubMed2004

Tyrosinemia type I: a clinico-laboratory case report.

Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum alpha-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary delta-aminolevulinic acid and succinylacetone, suggests a diagnosis of tyrosinemia type Ib. Classical tyrosinemia type I arises from a deficiency of fumarylacetoacetate hydrolase while the variant tyrosinemia type Ib results from a deficiency of maleylacetoacetate isomerase.

Female↗