Results 141 to 150 of about 585 (187)
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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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[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
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 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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Screening for inborn errors of amino acid metabolism.
Annals of clinical and laboratory science, 1991Early diagnosis and treatment may prevent brain damage and mental retardation in young infants with inborn errors of amino acid metabolism. The abnormal blood and urinary amino acids and their metabolites are listed in two separate tables in association with each disorder to aid laboratories in making a diagnosis during screening.
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[Prenatal diagnosis of inborn error of amino acid metabolism].
Nihon rinsho. Japanese journal of clinical medicine, 1992Prenatal diagnosis of inborn errors of amino acid metabolism was discussed from the viewpoints of its purpose, ethical problems, analysis methods, and sampling methods of the fetal tissues. In addition to the general discussion, our results of the prenatal diagnosis of 20 cases with nonketotic hyperglycinemia (NKH) were also reported.
S, Kure, K, Tada
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