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Related Concept Videos

Amino acids03:42

Amino acids

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Amino acids are the monomers that comprise proteins. Each amino acid has the same fundamental structure, which consists of a central carbon atom, or the alpha (α) carbon, bonded to an amino group (NH2), a carboxyl group (COOH), and to a hydrogen atom. Every amino acid also has another atom or group of atoms bonded to the central atom known as the R group. There are 20 common amino acids present in proteins, each with a different R group. Variation in the amino acid sequence is responsible for...
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Microorganisms rely on proteins as an essential carbon and energy source, particularly in environments with limited polysaccharides or lipids. However, proteins are too large to cross the plasma membrane unaided, necessitating enzymatic degradation. Microbes secrete extracellular proteases and peptidases that hydrolyze proteins into peptides, which can then be transported across the membrane. Once inside the cell, intracellular proteases degrade these peptides into free amino acids, which...
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Amino Acid Biosynthetic Pathways01:29

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Amino acid biosynthesis is essential for cell growth, protein synthesis, and metabolic regulation. Cells generate essential and non-essential amino acids from metabolic intermediates to sustain vital biological functions. These intermediates originate from key metabolic pathways: glycolysis, the tricarboxylic acid (TCA) cycle, and the pentose phosphate pathway. Important precursors include α-ketoglutarate, pyruvate, oxaloacetate, phosphoenolpyruvate, and erythrose-4-phosphate, which...
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Intrinsically Disordered Proteins02:18

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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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Disorders of Acid-Base Balance01:29

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The human body maintains a precise pH range of arterial blood between 7.35 and 7.45. Deviations result in either acidosis (pH < 7.35) or alkalosis (pH > 7.45). These conditions are further classified as respiratory or metabolic disorders based on their underlying cause.
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Phase II Reactions: Sulfation and Conjugation with &#945;-Amino Acids01:19

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Sulfation and α-amino acid conjugation are two critical biotransformation reactions in drug metabolism. Sulfation, a phase II biotransformation reaction, involves adding a polar sulfate group to a drug, enhancing its water solubility and promoting excretion. This process can either co-occur with or occur independently of glucuronidation. Nonmicrosomal sulfotransferase enzymes catalyze the process. The reaction involves 3'-phosphoadenosine-5'-phosphosulfate or PAPS coenzyme...
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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Amino acid disorders.

Ermal Aliu1, Shibani Kanungo2, Georgianne L Arnold1

  • 1Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Annals of Translational Medicine
|February 12, 2019
PubMed
Summary
This summary is machine-generated.

Amino acid metabolism disorders, or inborn errors of metabolism, stem from genetic defects affecting enzyme function. These conditions highlight the link between genetics, biochemistry, and medicine, impacting cell repair, growth, and requiring specialized metabolic nutrition.

Keywords:
Phenylketonuria (PKU)amino acidsdietary proteinintoxicationmetabolic formula

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Medicine

Background:

  • Amino acids are vital for protein synthesis, energy production, and cellular functions like repair and growth.
  • Humans utilize 21 amino acids, with 9 being essential dietary components.
  • Metabolic defects, such as in tyrosine metabolism, historically defined "Inborn Errors of Metabolism" (IEM).

Purpose of the Study:

  • To review common inborn errors in amino acid metabolism.
  • To underscore the historical significance of amino acid disorders in linking genetics and medicine.
  • To discuss the evolution of metabolic nutrition in managing these conditions.

Main Methods:

  • Review of literature on inborn errors of amino acid metabolism.
  • Discussion of historical context and key discoveries (e.g., Archibald Garrod's work).
  • Exploration of the biochemical basis of single gene defects leading to metabolic dysfunction.

Main Results:

  • Inborn errors of amino acid metabolism result from single gene defects causing enzyme dysfunction.
  • These defects can lead to the accumulation of toxic precursors within metabolic pathways.
  • The study of these disorders has been pivotal in developing screening and treatment strategies.

Conclusions:

  • Amino acid metabolism disorders are critical examples of inborn errors of metabolism.
  • Understanding these genetic and biochemical pathways is essential for clinical management.
  • Specialized metabolic nutrition, including restricted formulas, is a key treatment modality.