Inborn Errors of Amino Acid and Fatty Acid Metabolism with Hypoglycemia as a Major Clinical Manifestation

1989 ◽  
Vol 78 (2) ◽  
pp. 161-170 ◽  
Author(s):  
O. SøVIK
Keyword(s):  
Fatty Acid ◽  
Amino Acid ◽  
Clinical Manifestation ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Inborn Errors

Metabolic Disorders: Inborn Errors of Amino Acid, Ammonia, Organic Acid, and Fatty Acid Metabolism

2015 ◽  
Author(s):  
Sameer S Chopra ◽  
Gerard T Berry
Keyword(s):  
Fatty Acid ◽  
Amino Acid ◽  
Organic Acid ◽  
Small Molecule ◽  
Fatty Acid Metabolism ◽  
Metabolic Disorders ◽  
Acid Metabolism ◽  
Genetic Disorders ◽  
Inborn Errors ◽  
Branched Chain

The small molecule diseases include inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central among the biochemical genetic disorders that may present with life-threatening illnesses during infancy and childhood. Many of these disorders are now detected through routine newborn screening. Internists should be familiar with small molecule metabolic disorders as early diagnosis and therapy may enable many patients to survive into adulthood. Additionally, because some patients may not manifest symptoms until late adolescence or adulthood, recognition of the possibility of an inborn error of metabolism in a patient with unusual signs or symptoms may lead to referral to a metabolic specialist and timely diagnosis and treatment. This module reviews the diagnosis, treatment, and natural history of disorders of amino acid, ammonia, organic acid, and fatty acid metabolism. Figures show the methionine-homocysteine-cysteine pathway and branched-chain amino acid metabolism. This module contains 2 highly rendered figures, 18 references, 53 recommended readings, and 5 MCQs.

scholarly journals Starvation causes disturbance in amino acid and fatty acid metabolism in Diporeia

2012 ◽  
Vol 161 (4) ◽  
pp. 348-355 ◽  
Author(s):  
Suman Maity ◽  
Amber Jannasch ◽  
Jiri Adamec ◽  
Thomas Nalepa ◽  
Tomas O. Höök ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Amino Acid ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism

Effects of sodium monofluoroacetate on glucose, amino-acid, and fatty-acid metabolism and risk assessment of glucose supplementation

2009 ◽  
Vol 32 (4) ◽  
pp. 353-361 ◽  
Author(s):  
Hiroshi Tsuji ◽  
Hiroyasu Shimizu ◽  
Tomotaro Dote ◽  
Kan Usuda ◽  
Masafumi Imanishi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Fatty Acid ◽  
Amino Acid ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Glucose Supplementation

The activation of fatty acid metabolism by Vespa amino acid mixture (VAAM) and related nutrients during endurance exercise in mice

1997 ◽  
Vol 29 (11) ◽  
pp. 1543,1544
Author(s):  
Takashi Abe ◽  
Mihoko Inamori ◽  
Kouji Iida ◽  
Masahiro Tamura ◽  
Yoshimi Takiguchi ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Amino Acid ◽  
Fatty Acid Metabolism ◽  
Endurance Exercise ◽  
Acid Metabolism ◽  
Amino Acid Mixture ◽  
Acid Mixture

scholarly journals Modelling Metabolic Shifts during Cardiomyocyte Differentiation, Iron Deficiency and Transferrin Rescue Using Human Pluripotent Stem Cells

Metabolites ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 9
Author(s):  
Benjamin B. Johnson ◽  
Johannes Reinhold ◽  
Terri L. Holmes ◽  
Jamie A. Moore ◽  
Verity Cowell ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Amino Acid ◽  
Iron Deficiency ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Tca Cycle ◽  
High Energy ◽  
Metabolic Substrate ◽  
Substrate Utilisation ◽  
Substrate Metabolism

Cardiomyocytes rely on specialised metabolism to meet the high energy demand of the heart. During heart development, metabolism matures and shifts from the predominant utilisation of glycolysis and glutamine oxidation towards lactate and fatty acid oxidation. Iron deficiency (ID) leads to cellular metabolism perturbations. However, the exact alterations in substrate metabolism during ID are poorly defined. Using human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CM), the present study investigated changes in major metabolic substrate utilisation in the context of ID or upon transferrin rescue. Typically, during hiPSC-CM differentiation, the greatest increase in total metabolic output and rate was seen in fatty acid metabolism. When ID was induced, hiPSC-CMs displayed increased reliance on glycolytic metabolism, and six TCA cycle, five amino acid, and four fatty acid substrates were significantly impaired. Transferrin rescue was able to improve TCA cycle substrate metabolism, but the amino acid and fatty acid metabolism remained perturbed. Replenishing iron stores partially reverses the adverse metabolic changes that occur during ID. Understanding the changes in metabolic substrate utilisation and their modification may provide potential for discovery of new biomarkers and therapeutic targets in cardiovascular diseases.

Intramitochondrial fatty acid metabolism: riboflavin deficiency and energy production

1991 ◽  
Vol 69 (7) ◽  
pp. 490-497 ◽  
Author(s):  
H. G. Parsons ◽  
V. C. Dias
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Newborn Infants ◽  
Fatty Acyl ◽  
Acid Oxidation ◽  
Medium Chain Triglycerides ◽  
Riboflavin Deficiency ◽  
Inborn Errors ◽  
Medium Chain

Inborn errors of fatty acid β-oxidation have contributed significantly to our understanding of intracellular fatty acid metabolism. The first intramitochondrial step in β-oxidation of fatty acyl-CoA of different chain lengths is catalyzed by the three chain length specific acyl-CoA dehydrogenases. Inherited deficiency of these enzymes has been reported. Some are riboflavin responsive. The first step of fatty acid oxidation is reviewed with specific emphasis on β-oxidation in newborn infants, rendered riboflavin deficient by phototherapy. Given that medium chain fatty acids are not stored as triacylglycerols and undergo rapid β-oxidation, they have been proposed as superior substrates compared with long chain triglycerides in times of metabolic stress. This review also examines medium chain triglycerides as an alternate energy source. When medium chain triglycerides were fed as 50% of total energy, glucose sparing was present with little loss of energy as dicarboxylic acids.Key words: β-oxidation, acyl-CoA dehydrogenase, riboflavin, medium chain triglycerides, dicarboxylic acids.

scholarly journals Plasma Metabolic Profiling Analysis of Gout Party on Acute Gout Arthritis Rats Based on UHPLC–Q–TOF/MS Combined with Multivariate Statistical Analysis

2019 ◽  
Vol 20 (22) ◽  
pp. 5753 ◽  
Author(s):  
Yuming Wang ◽  
Chenghao Bi ◽  
Wentao Pang ◽  
Yuechen Liu ◽  
Yu Yuan ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Amino Acid ◽  
Energy Metabolism ◽  
Fatty Acid Metabolism ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Gouty Arthritis ◽  
Enoic Acid ◽  
Plasma Samples ◽  
Tof Ms

Gout Party is a Chinese medicine prescription composed of Aconiti Lateralis Radix Praeparaia, Aconiti Radix Cocta, Cremastrae Pseudobulbus Pleiones Pseudobulbus, Smilacis Glabrae Rhizoma, Rehmanniae Radix, and Glycyrrhizae Radix et Rhizoma, which can relieve joint pain caused by gouty arthritis (GA) and rheumatoid, and has a therapeutic effect on acute gouty arthritis (AGA). However, little information is available on the molecular biological basis and therapeutic mechanism of Gout Party for the treatment of AGA. AGA model was established by injecting sodium urate, and colchicine served as a positive control drug. We established a metabolomic method based on ultra-high-performance liquid chromatography–tandem quadrupole/time-of-flight mass spectrometry (UHPLC–Q–TOF/MS) to analyze the plasma samples of model group rats and blank group rats. Multiple statistical analyses, including principal component analysis (PCA) and partial least square discrimination analysis (PLS-DA), were used to examine metabolite profile changes in plasma samples. Finally, we identified 2–ketobutyric acid, 3–hexenedioic acid, but–2–enoic acid, and so on; 22 endogenous metabolites associated with AGA. After successful molding, we found that 2–ketobutyric acid, 3–hexenedioic acid, but–2–enoic acid, argininic acid, galactonic acid, lactic acid, equol 4′–O–glucuronide, deoxycholic acid glycine conjugate, glycocholic acid, sphinganine 1–phosphate, LPE (0:0/20:3), LPE (0:0/16:0), LPC (15:0) decreased significantly (p < 0.05 or p < 0.01), alanine, erythrulose, 3–dehydrocarnitine, m–methylhippuric acid, 3–hydroxyoctanoic acid, p–cresol sulfate, estriol 3–sulfate 16–glucuronide, 10–hydroxy–9–(phosphonooxy)octadecenoate, docosahexaenoic acid increased significantly (p < 0.05 or p < 0.01). After Gout Party treatment, 14 biomarkers had a tendency to normal conditions. These above biomarkers were mainly involved in fatty acid metabolism, bile acid metabolism, amino acid metabolism, and energy metabolism pathways. These results suggested that Gout Party exerted therapeutic effects of treating AGA by improving energy metabolism disorder and amino acid metabolism dysfunction, and attenuating fatty acid metabolism abnormal and inflammation. The results of this experiment provided a reference for revealing the metabolic mechanism produced by Gout Party in the treatment of AGA, but the subsequent studies need to be further improved and supported by relevant cell experiments and clinical experiments.

Sign in / Sign up

Export Citation Format

Share Document