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Inborn Errors of Sulfur-Containing Amino Acid Metabolism [PDF]
Journal of Nutrition, 2006 Two superimposed metabolic sequences, transsulfuration and the methionine/homocysteine cycle, form the pathway for methionine metabolism in mammalian liver. This combined pathway was formulated first to explain observations in subjects with homocystinuria caused by cystathionine synthase deficiency.
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Nutrition support of inborn errors of amino acid metabolism
International Journal of Bio-Medical Computing, 1985Programs for nutrition support of patients with phenylketonuria, maternal phenylketonuria, branched chain ketoaciduria and vitamin B-6 non-responsive homocystinuria were written in BASIC. These programs plan diets to fill diet prescriptions using natural foods, available amino acid-free or restricted elemental products, milk or infant proprietary ...
B, Kennedy, K, Anderson, P B, Acosta
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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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Inborn errors of amino acid metabolism in North India
Journal of Inherited Metabolic Disease, 1993SummaryWe screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin‐layer chromatography of urine/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic ...
M, Kaur, G P, Das, I C, Verma
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Screening for inborn errors of amino acid metabolism
Indian Journal of Pediatrics, 1974exaly +2 more sources
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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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 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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A Survey of Inborn Errors of Amino Acid Metabolism and Transport in Man
Annual Review of Biochemistry, 1981D, Wellner, A, Meister
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