The solid-phase microextraction (SPME) technique was evaluated for the determination of furoic acid and creatinine in urine. For furoic acid, the alkaline hydrolysis step was first performed to hydrolyze the furoic acid-glycine conjugate to free furoic acid. Afterwards, the poly(dimethylsiloxane)/ divinylbenzene (PDMS/DVB) fiber was used with direct urine sample immersed for 60 sec under 1200 r...

The Heller’s color test for indican in urine is interesting because besides detecting this important biomarker it reveals the dual function of nitric acid since can accomplish synthesis indigo blue and red, as well degrade them to isatin, depending upon reaction conditions. Moreover, inspired other tests detection, using oxidizing reagents. Actually, detected by a colour chart with different to...

L-2-hydroxyglutaric aciduria is a rare and novel autosomal recessive inherited neurometabolic disorder. Since its first description by Duran in 1980, less than 100 cases have so far been reported. Occurring mostly in childhood, it is characterized by slowly progressive neurological dysfunction with cerebellar ataxia, pyramidal signs, intellectual decline, seizure, and extrapyramidal symptoms. M...

A multi-purpose-sampler (Gerstel MPS), designed for liquid large volume, gaseous and headspace samples was used for the GC-MS analysis of organic volatiles in human urine and plasma. Headspace sampling with a volume, temperature and speed controlled gas tight syringe was combined with a temperature controlled cooled injection system for cold trapping, enrichment and focussing of analyte. Regula...

Numerous drugs and endogenous compounds are efficiently excreted from the renal proximal tubule via carrier-mediated pathways. Transepithelial excretion of organic anions occurs via their accumulative transport from the blood into the proximal tubule cells across the basolateral membrane and subsequent secretion into the urine through the apical membrane. Here we report on the isolation of a no...

Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis, intrauterine growth retardation, enlarged brain ventricles and brain anomalies are observed. Growth and development failure, hypotonia, seizures and brain atrophy are the common characteristics of patients with fumarase ...

Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Alt...