Research of diagnosis and therapy for inborn error of organic acid metabolism: Analysis of acylcarnitines and organic acid-glucuronides, and their appreciations for diagnosis and therapy.

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1) We have developed a new synthesis mehtod of organic acid-glucuronides (D-glucuronic acid-1-0-Acyl derivatives), which will contribute to the study of organic acid metabolism as well as to that of drug metabolism and detoxification.2) The automatic quantitative analytical method for acylcarnitines is based on the use of a carboxilic acid analyzer with column switching. With removed particulate matter, urinary short-medium chain acylcarnitines were directly quantified. Total analysis time from urine sampling to the simultaneous calculation of the acylcarnitines is 120 min. Detection limits of the acylcarnitines were 50p mol. The high sensitivity was possible due to the use of a new carboxylic acid analyzer(S-3000 type; 10p mol).3) The presence of methylmalonylcarnitine was minimal in urine and amniotic fluid in patients with methylmalonic aciduria, although significant levels were observed in tissues of these patients.4) Although serum free carnitine in patients with cefteram pivoxil medication was dramatically decreased during the study period,these patients' clinical state, and blood ammonia, lactate and pyruvate levels were not significantly change. Mitochondrial dysfunction was not suggested.The sensitivity of LC/MS was insufficient for detection of organic acid-glucuronides and gamma-butyrobetain in serums. For this, further study will be required using a high sensitive carboxylic acid analyzer.