Dietary Management of Inborn Errors of Amino Acid Metabolism With Protein-Modified Diets

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S92-S111 ◽  
Author(s):  
Enolia Thomas
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Propionic Acidemia ◽  
Methylmalonic Aciduria ◽  
Inborn Errors ◽  
Amino Acid Requirement ◽  
Maple Syrup ◽  
Lyase Deficiency

This paper presents experiences encountered with protein-modified diets (PMD) in the management of 67 patients, aged 1 day to 14 years, followed in the Pediatric Nutrition Clinic in the past 5 years. All had inborn errors of amino acid metabolism : maple syrup urine disease (MSUD), 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, propionic acidemia (PPA), or methylmalonic aciduria (MMA). In early infancy, the diet prescription is frequently adjusted to search for the infant's tolerance level of restricted amino acids. The levels must be established when natural foods other than milk are added to the PMD. The amino acids restricted are leucine, isoleucine, and valine in MSUD; leucine in HMG-CoA lyase deficiency; and isoleucine, methionine, threonine, and valine in PPA and MMA. Efficacy of the PMD depends on accuracy in prediction of the restricted amino acid requirement and the willingness and ability of parents and patients to conform to its demands. (J Child Neurol 1992;7(Suppl):S92-S111.)

A Rapid and Simple Thin-Layer Chromatographic Method for Amino Acids in Blood

1969 ◽  
Vol 15 (9) ◽  
pp. 902-907 ◽  
Author(s):  
William J Culley
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Thin Layer ◽  
Paper Chromatography ◽  
Amino Acid Metabolism ◽  
Chromatographic Method ◽  
Acid Metabolism ◽  
Inborn Errors ◽  
Chromatographic Methods ◽  
Finger Tip

Abstract Simple and rapid thin-layer chromatographic methods, using heel or finger-tip blood, are described that are suitable for screening for inborn errors of amino acid metabolism. Serum is chromatographed without deproteinizing. A variation of this method utilizes blood impregnated on paper discs for chromatography. These methods are much faster, more sensitive, and provide better resolution of amino acids than paper chromatography. Because untreated serum- or blood-impregnated discs are placed directly on thin-layer chromatograms, these methods require considerably less working time than other thin-layer chromatographic methods.

scholarly journals Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Rianne E. van Outersterp ◽  
Sam J. Moons ◽  
Udo F. H. Engelke ◽  
Herman Bentlage ◽  
Tessa M. A. Peters ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
The Body ◽  
Inborn Errors ◽  
Primary Metabolite ◽  
Diagnostic Strategies ◽  
Ion Spectroscopy ◽  
Disease Biomarkers ◽  
Amadori Rearrangement

AbstractThe identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology. A primary metabolite that accumulates in the inborn error phenylketonuria is phenylalanine, however its levels do not always directly correlate with clinical outcomes. Here we combine infrared ion spectroscopy and NMR spectroscopy to identify the Phe-glucose Amadori rearrangement product as a biomarker for phenylketonuria. Additionally, we find analogous amino acid-glucose metabolites formed in the body fluids of patients accumulating methionine, lysine, proline and citrulline. Amadori rearrangement products are well-known intermediates in the formation of advanced glycation end-products and have been associated with the pathophysiology of diabetes mellitus and ageing, but are now shown to also form under conditions of aminoacidemia. They represent a general class of metabolites for inborn errors of amino acid metabolism that show potential as biomarkers and may provide further insight in disease pathophysiology.

Biochemische Aspekte des Aminosäuren-Stoffwechsels bei Psoriasis vulgaris / Biochemical Aspects of Amino Acid Metabolism in Psoriasis vulgaris

1973 ◽  
Vol 28 (7-8) ◽  
pp. 449-451 ◽  
Author(s):  
G. Peter ◽  
H. Angst ◽  
U. Koch
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Free Amino Acids ◽  
Free Amino ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Psoriasis Vulgaris ◽  
Normal Subjects ◽  
Pathological Process

Free and protein-bound amino acids in serum and scales were investigated. In serum the bound amino acids of psoriatics are significantly higher with exception of Pro, Met, Tyr and Phe in contrast to normal subjects. For free amino acids the differences between normal subjects and psoriatics found in serum and scales are not significant. Results are discussed in relation to the single amino acids and the biochemical correlations are outlined which takes the pathological process as a basis.

scholarly journals The Diverse Functions of Non-Essential Amino Acids in Cancer

Cancers ◽  
2019 ◽  
Vol 11 (5) ◽  
pp. 675 ◽  
Author(s):  
Bo-Hyun Choi ◽  
Jonathan L. Coloff
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Cancer Therapy ◽  
Metabolic Pathways ◽  
Essential Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Essential Amino Acids ◽  
Redox Status ◽  
Antioxidant Systems

Far beyond simply being 11 of the 20 amino acids needed for protein synthesis, non-essential amino acids play numerous important roles in tumor metabolism. These diverse functions include providing precursors for the biosynthesis of macromolecules, controlling redox status and antioxidant systems, and serving as substrates for post-translational and epigenetic modifications. This functional diversity has sparked great interest in targeting non-essential amino acid metabolism for cancer therapy and has motivated the development of several therapies that are either already used in the clinic or are currently in clinical trials. In this review, we will discuss the important roles that each of the 11 non-essential amino acids play in cancer, how their metabolic pathways are linked, and how researchers are working to overcome the unique challenges of targeting non-essential amino acid metabolism for cancer therapy.

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

2006 ◽  
Vol 88 (2) ◽  
pp. 159-165 ◽  
Author(s):  
H. Vlaardingerbroek ◽  
G. Hornstra ◽  
T.J. de Koning ◽  
J.A.M. Smeitink ◽  
H.D. Bakker ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Amino Acid ◽  
Polyunsaturated Fatty Acids ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Inborn Errors
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