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...

Modern instrumentation allows the measurement of organic acids in urine in their physiological concentration ranges. Eight of the compounds that are reported can serve as markers for specific toxicant exposure or detoxification challenges. Xylene exposure causes elevation of 2-methylhippurate, and orotic acid elevation reveals ammonia challenge that exceeds the capacity of the urea cycle. Gener...

Although metabolic acidosis from a variety of causes is very frequent in infancy, congenital acidosis appears to be extremely rare. Two unrelated cases of a new syndrome are now described with a congenital metabolic acidosis resulting from a block in the conversion of methylmalonic acid to succinic acid. The first had persistent mild acidosis with acute episodes of severe metabolic acidosis dur...

In most developed countries, neonatal mass screening programs for the early diagnosis of inborn errors of metabolism (IEM) have been implemented and have been found to be effective for the prevention or significant reduction of clinical symptoms such as mental retardation. These programs rely primarily on simple bacterial inhibition assays (the "Guthrie tests"). We developed a new method for sc...

Two sisters, aged 6 and 2 1/2 years, presented with macrocephaly and delayed motor development and were found on computerized tomography to have bilateral arachnoid cysts of the sylvian region. Cystoperitoneal shunting of the larger cysts resulted in considerable neurological improvement in both children. Subsequent screening of the patients' urine for organic acids showed that the two sisters ...

An analytical method for the determination of total iodine at the ng level in urine, biological materials and foods was investigated. The organic substances were completely decomposed using a mixed solution of nitric, perchloric and sulfuric acids as pretreatment agents at ca. 230 degrees C. Iodine in the resulting solution was analyzed by a kinetic-photometric method based on the catalytic eff...

Mercapturic acids are N-acetyl-L-cysteine S-conjugates that are formed from a range of endogenous and exogenous chemicals. Although the kidney is a major site for elimination of mercapturic acids, the transport mechanisms involved have not been identified. The present study examined whether mercapturic acids are substrates for the renal basolateral organic anion transporter-1 (Oat1) from rat ki...

This review article is a comprehensive survey of capillary electrophoresis methods developed for the measurement of short-chain organic acids and inorganic anions in a wide variety of matrices, such as food and beverages, environmental, industry, and other applications, as well as clinical applications in body fluids such as urine, plasma or cerebrospinal fluid. Details of sample pretreatment a...

nowadays the use of probiotic products especially yogurt, due to having wonderful and health properties, has become popular in the world. in this study, the effect of homogenization pressure (100, 150 and 200 bars) and stage (single and two) on the amount of lactic and acetic acids was investigated. yoghurts were manufactured from low-fat milk treated using high pressure homogenization at 100,1...

the postharvest life of cut eustoma grandiflorum flowers is limited in open flowers. therefore a factorial experiment based on a completely randomized design with ascorbic acid (asa) at 4 levels (0, 100, 200, 300mg l-1) and citric acid (ca) at 3 levels (0, 100, 200 mg l-1) with 3 replications and 3 samples for each replications, was conducted for this purpose. results indicated that a significa...