organic academia are diverse group of disorders characterized by abnormal degredation of specific amino acid in the specific catabolism due to an enzymeactivity defect which mainly due to enzyme deficiency. the majority of the classic organic acid disorders are caused by abnormal catabolism of branched-chain amino acids like lysine. maple syrup urine disease (msud), propionic acidemia, methylma...

INTRODUCTION Sarcosinaemia is a rare metabolic disorder which has not been reported in Asia. CLINICAL PICTURE The urine samples of 2 patients were screened as a routine metabolic screening offered for patients with mental retardation in our hospital. We used gas chromatography-mass spectrometry (GC-MS) which is capable of detecting abnormal pattern in amino acids and organic acids. Plasma sar...

Drcarboxylic aciduria is a condition sometimes encountered during routine urine screening for inborn errors of metabolism [l] and may be due to ketosrs, a transient condition m some neonates [2] or a number of enzyme deficiencies mainly involving fatty acid metabolism or transport. Unsaturated dicarboxylic acids have also been reported m some of these conditions. These compounds are usually det...

Low molecular weight organic acids are most predominant in apple juice among these components fumaric acid was not exceed more than 5 ppm. It was thought that the HPLC is the best method of the determination of organic acids in the apple juice. In this study, chromatographic separation of organic acids of apple juice was obtained by preparing a sample and by applying them to acid phase for ...

Jamaican vomiting sickness is characterized by sudden-onset acute vomiting and diarrhoea with profound hypoglycaemia, leading t o coma and death. Pathological changes observed include fatty infiltration of the viscera, and similarities with Reye’s syndrome (encephalopathy and fatty degeneration of the viscera) have been noted (Lowry, 1975). Recently, twin siblings presented in Harrow with a n u...

We studied qualitative pattern of urinary acidic metabolites excreted by normal persons. The results provide a basis on which to compare results for patients with potentially abnormal organic acidurias. A series of urinary polyhydroxy (aldonic and deoxyaldonic) acids has been identified. Most of these compounds have not been previously reported in human urine, except in connection with the pres...

1. The apparent renal clearance of intravenously injected [14C]glycocholate and [3H]chenodeoxycholate-3-sulphate was estimated in 22 patients with cholestasis. The degree of protein binding of the isotopes in serum from these patients was determined. The effects of pharmacological agents, changes in urine flow rate and pH on renal clearance was studied. 2. The mean renal clearance of [14C]glyco...

ADDRESS: 219 Bryant Street, Buffalo 22, New York. V ARLETLES of syndromes have been described in which an abnormal amount of organic acid appears in the urine. In many of those syndromes which have been carefully studied, amino acids appear to constitute the major portion of organic acids. This probably is the result of the development of adequate methodology for the determination of amino acid...

In order to examine correlations which might be useful in ascertaining or confirming the diagnosis of mitochondrial disease, a retrospective analysis of urine organic acids was performed. Among 3646 analyses from randomly selected samples referred to our laboratory, there were 258 specimens from 67 patients with various known disorders of mitochondrial oxidative function, most of whom were know...

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...