Aldehydes are highly reactive molecules formed during the biotransformation of numerous endogenous and exogenous compounds, including biogenic amines. 3,4-Dihydroxyphenylacetaldehyde is the aldehyde metabolite of dopamine, and 3,4-dihydroxyphenylglycolaldehyde is the aldehyde metabolite of both norepinephrine and epinephrine. There is an increasing body of evidence suggesting that these compoun...

Obwohl inzwischen die messtechnischen Voraussetzungen geschaffen wurden, auch niedrige GHB–Konzentrationen in biologischen Flüssigkeiten zu erfassen [1,2], haben diese noch keinen allgemeinen Eingang in die klinisch-toxikologische und forensische Analytik gefunden. Daraus resultieren u. a. die Probleme bei der Interpretation der Messergebnisse. Die Schwierigkeiten in der GHB-Analytik sind außer...

The aldehyde dehydrogenase gene superfamily comprises of 19 genes and 3 pseudogenes. These superfamily genes play a vital role in the formation of molecules that are involved in life processes, and detoxification of endogenous and exogenous aldehydes. ALDH superfamily genes associated mutations are implicated in various diseases, such as pyridoxine-dependent seizures, gamma-hydroxybutyric acidu...

Organic acidurias are an important group of inherited metabolic disorders that affect the intermediary metabolic pathways of carbohydrate, amino acid, and fatty acid oxidation, leading to the accumulation of organic acids.(1) The 2-hydroxyglutaric acidurias are rare neurometabolic disorders characterized by developmental delay with or without other neurologic dysfunction. Three different subtyp...

Seoul Clinical Laboratories began screening newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. The goal was to determine approximate prevalence of metabolic disorders and optimization of decision criteria for estimation of preventive effect with early diagnosis. Approximately 44,300 neonates and children were screened and the estimated prevalence (newb...

Positive-ion thermospray liquid chromatography-mass spectrometry (TSP-LC-MS) is used to detect organic acids via the direct injection of untreated urine from newborns and infants. Two methods are reported for the separation of organic acids. The separation of urinary organic acids is effected in either an acidic, pH 2.5 sulfuric acid, or a non-acidic, 0.05 M ammonium acetate, pH 6.8, mobile pha...

We encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels isoleucine, was confirmed. Supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. We assume that in our patient the sk...

ACETOACETIC and f-hydroxybutyric acids are known to undergo two chief metabolic changes, interconversion and oxidative breakdown. The reversibility of the reaction, acetoacetic acid =,-hydroxybutyric acid, was demonstrated in liver brei by Dakin & Wakeman [1910, 1, 2] and in perfused liver by Friedmann & Maase [1910]. Furthermore, the interconversion of these ketoand hydroxy-acids, both in live...