examination revealed normal muscular tonus and normal deep tendon reflexes with clumsy gait. Metabolic screening tests, including tandem mass, urine organic acids, plasma, and urine amino acid profiles were also normal. The patient underwent MRI of the brain as a firstline investigation, and T2 images demonstrated an extensive involvement of the hemispheric, subcortical white matter with a cere...

For the first time, hollow-fiber liquid-phase microextraction combined with high-performance liquid chromatography-ultraviolet was used to extract trans,trans-muconic acid, in urine samples of workers who had been exposed to benzene. The parameters affecting the metabolite extraction were optimized as follows: the volume of sample solution was 11 mL with pH 2, liquid membrane containing dihexyl...

A male neonate was born to a 35-year-old mother at an outside hospital at 39 1/7 weeks gestation via emergency cesarean section due to decreased fetal movements. The infant had respiratory distress secondary to meconium aspiration and was noted to have a large, distended abdomen at birth. Subsequent ultrasound confirmed hepatosplenomegaly with no evidence of liver mass or ascites. By report, al...

(-)-N-{2-[(R)-3-(6,7-Dimethoxy-1,2,3,4-tetrahydroisoquinoline-2-carbonyl)piperidino]ethyl}-4-fluorobenzamide (YM758) is a novel inhibitor of the "funny" If current channel (If channel) that is expressed in the sinus node of heart and is being developed as a treatment for stable angina and atrial fibrillation. Its metabolites were identified in human urine, plasma, and feces by radio-high-perfor...

This study was aimed at clarifying the gender differences in the urinary excretion of organic anions and the gene expression of organic anion transporters in rats. The renal clearance with regard to the plasma concentration (CL(urine,p)) of taurocholate, dibromosulfophthalein (DBSP), and zenarestat, all substrates and/or inhibitors of organic anion transporting polypeptide 1 (Oatp1), was much h...

A national interlaboratory quality assurance programme for quantitative urine analysis has been conducted over the past three years in Australasia under the auspices of the Royal College of Pathologists of Australasia and the Australian Association of Clinical Biochemists. Analysis of urine calcium has consistently improved over the three year period whereas urine protein analysis has consisten...

Kalanchoe pinnata leaves are used in South Asia as a natural kidney stone treatment. In vitro studies were conducted supersaturated and artificial urine solutions to evaluate the antiurolithic properties of K. leaf extract on calcium oxalate monohydrate (COM) surgically extracted stones. Key organic acids present plant also examined investigate inhibition formation. Crystals harvested from diss...

Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unreported mutation. Urine organic acid chromatogram revealed elevated 4-hydroxybutyric acid. Magnetic ...

Late-onset glutaric aciduria type II has been described recently as a rare but treatable cause of proximal myopathy in teenagers and adults. It is an autosomal recessive disease affecting fatty acid, amino acid, and choline metabolism. This is usually a result of 2 defective flavoproteins: either electron transfer flavoprotein (ETF) or electron transfer flavoprotein-ubiquinone oxidoreductase (E...