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Diagnosis of Inborn Errors of Amino Acid Metabolism
Archives of Pediatrics & Adolescent Medicine, 1967IN THE PAST, new syndromes were reported when an astute clinical observer noted a pattern of symptoms which had not previously been recognized. Recently, the trend has been toward the description of biochemical aberrations long before the clinical manifestations of the diseases are established.
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Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism
2022Analysis of clinically relevant amino acids using ion exchange chromatography coupled to photometric/fluorescent detection has been an indispensable component in the detection of inborn errors of metabolism for six decades. Detection of amino acids using mass spectrometry offers advantages in speed and analytic specificity.
Stephen M, Roper +2 more
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Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism
2010The diagnosis of inherited metabolic disorders of amino acid (AA) metabolism is based on the qualitative and/or the quantitative analysis of AAs, mainly in blood and urine. For years, the most widespread technique in use was ion-exchange chromatography followed by post-column derivatization with ninhydrin, a method which is the basis of numerous ...
Monique, Piraud +6 more
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Inborn Errors of Amino Acid Metabolism: The Best Strategy for Their Diagnosis
International Journal of Technology Assessment in Health Care, 1992AbstractWe performed a cost-effectiveness analysis to evaluate whether a pediatrician who suspects an inherited disease of amino acid metabolism should refer the child to a specialist in inborn errors of amino acid metabolism or should prescribe the usual screening test, chromatography of amino acids.
I, Durand-Zaleski +3 more
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Dietary management of inborn errors of amino acid metabolism
Postgraduate Medicine, 1979Individually, inborn errors of amino acid metabolism are rare. Collectively, however, they constitute a significant group of diseases whose number is constantly increasing. Their recognition is important, especially in childhood, because many of these diseases respond well to diet therapy.
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The Nutritional Significance of Inborn Errors of Amino Acid Metabolism
Annals of Nutrition and Metabolism, 1977Inborn errors of metabolism affect the metabolism of 7 out of 8 essential amino acids and a number of non-essential ones. Dietary treatment has been applied with varying success. The wide variations in the severity of symptoms in this group of diseases are discussed.
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Inborn Errors of Amino Acid and Organic Acid Metabolism
1992Human genes are assumed to number more than 50,000, and 4937 Mendelian inheritances are presently known (1). There are more than 500 inherited diseases in which primary defects are located in enzyme protein or nonenzyme protein. About 180 diseases are known in which a disorder of intermediary metabolism occurs as a result of a single enzyme defect.
Isamu Matsumoto, Tomiko Kuhara
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[Inborn errors of amino acid metabolism].
Nihon rinsho. Japanese journal of clinical medicine, 1992Several conditions and disorders were caused by enzyme defects in metabolism of imino acids. Hyperprolinemia type I and type II, hyperhydroxyprolinemia, imidopeptiduria (prolidase deficiency) were related to proline and/or hydroxyproline metabolism. Sarcosinemia and abnormality in pipecolic acid metabolism were also classified as inborn errors of imino
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Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism
2009Analysis of clinically relevant amino acids using ion-exchange chromatography coupled to photometric detection has been an indispensable component in the detection of inborn errors of metabolism for six decades. Detection of amino acids using mass spectrometry offers advantages in speed and analytic specificity.
Dennis J, Dietzen, Annette L, Weindel
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Inborn Errors of Amino Acid and Organic Acid Metabolism
1998Each of the 30 to 40 inborn errors of amino acid and or organic acid metabolism represent a rare occurrence in perinatal medicine. However, their combined incidence is about 1/4000 in the neonatal period. Their importance derives from what they tell us about intermediary metabolism and from the fact that these are generally treatable diseases if ...
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