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Related Concept Videos

Disorders of Acid-Base Balance01:29

Disorders of Acid-Base Balance

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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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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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All living things are formed mostly of carbon compounds called organic compounds. The category of organic compounds includes both natural and synthetic compounds that contain carbon. Although a single, precise definition has yet to be identified by the chemistry community, most agree that a defining trait of organic molecules is the presence of carbon as the principal element, bonded to hydrogen and other carbon atoms. However, some carbon-containing compounds such as carbonates, cyanides, and...
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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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Nucleic acids are the most important macromolecules for the continuity of life. They carry the cell's genetic blueprint and carry instructions for its functioning.
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Updated: Jan 29, 2026

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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Organic acid disorders.

Jessica Ramsay1, Jacob Morton1, Marie Norris2

  • 1Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA.

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

Organic acid (OA) disorders, inborn errors of metabolism, cause metabolic acidosis and hyperammonemia. Early diagnosis and management, including vitamin therapy and nutrition, are vital to prevent severe outcomes.

Keywords:
Organic acids (OAs)high anion gap metabolic acidosishyperammonemianeutropeniavaline, odd chain fatty acids, methionine, isoleucine, and threonine (VOMIT)

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Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Clinical Chemistry

Background:

  • Organic acids (OAs) are metabolic intermediates in amino acid catabolism and energy production.
  • Vitamins and cofactors are essential for OA metabolism and degradation pathways.
  • Enzyme defects lead to OA accumulation, impacting acid-base and nitrogen balance.

Purpose of the Study:

  • To highlight the diagnostic and clinical significance of organic acid disorders.
  • To emphasize the role of specific biochemical findings in identifying these conditions.
  • To underscore the importance of timely management for preventing adverse outcomes.

Main Methods:

  • Gas chromatography-mass spectrometry (GC/MS) for identifying OAs in body fluids.
  • Clinical presentation analysis, including the VOMIT acronym (valine, odd chain fatty acids, methionine, isoleucine, threonine).
  • Differential diagnosis of metabolic acidosis, including high anion gap and hyperammonemia.

Main Results:

  • OA disorders are characterized by high anion gap metabolic acidosis with hyperammonemia.
  • These disorders can present as life-threatening conditions in early infancy.
  • Accumulation of specific amino acids is not a typical feature, unlike other metabolic disorders.

Conclusions:

  • Organic acid disorders are critical inborn errors of metabolism requiring prompt recognition.
  • Management involves specialized metabolic nutrition, vitamin/cofactor therapy, and acute illness protocols.
  • Optimal metabolic control and patient/caregiver education are crucial for preventing long-term morbidity and mortality.