3-Methylglutaconic acid: Difference between revisions

Latest revision as of 16:32, 16 February 2025

3-Methylglutaconic Acid[edit]

3-Methylglutaconic acid is an organic compound that is classified as a dicarboxylic acid. It is a derivative of glutaconic acid with a methyl group attached to the third carbon of the pentadiene chain. This compound is of particular interest in the field of biochemistry and medicine due to its role in certain metabolic disorders.

Structure and Properties[edit]

3-Methylglutaconic acid has the chemical formula C₆H₁₀O₄. It consists of a five-carbon chain with two carboxylic acid groups and a methyl group attached to the third carbon. The presence of the methyl group distinguishes it from glutaconic acid.

The compound is typically found in its anionic form, 3-methylglutaconate, under physiological conditions. It is a colorless solid that is soluble in water and exhibits typical acidic properties.

Biological Role[edit]

In the human body, 3-methylglutaconic acid is an intermediate in the metabolism of certain amino acids, including leucine. It is produced in the mitochondria and is involved in the tricarboxylic acid cycle (TCA cycle), also known as the Krebs cycle.

Clinical Significance[edit]

Elevated levels of 3-methylglutaconic acid in the urine are associated with a group of metabolic disorders known as 3-methylglutaconic aciduria (3-MGA). These disorders are characterized by defects in mitochondrial function and can lead to a variety of symptoms, including developmental delay, muscle weakness, and neurological problems.

There are several types of 3-methylglutaconic aciduria, each with different genetic causes and clinical presentations. These include:

Type I: Caused by mutations in the AUH gene, which encodes an enzyme involved in leucine metabolism.
Type II (Barth syndrome): A rare X-linked disorder affecting mitochondrial function, often associated with cardiomyopathy and neutropenia.
Type III (Costeff syndrome): Characterized by optic atrophy and neurological symptoms, linked to mutations in the OPA3 gene.

Diagnosis and Treatment[edit]

Diagnosis of 3-methylglutaconic aciduria is typically made through urine organic acid analysis using gas chromatography-mass spectrometry (GC-MS). Genetic testing can confirm the specific type of the disorder.

Treatment is largely supportive and may include dietary management, physical therapy, and medications to manage symptoms. In some cases, coenzyme Q10 supplementation has been used to support mitochondrial function.

Related Pages[edit]

@@ Line 1: / Line 1: @@
-{{Short description|A chemical compound involved in metabolic disorders}}
+== 3-Methylglutaconic Acid ==
-{{DISPLAYTITLE:3-Methylglutaconic acid}}
-'''3-Methylglutaconic acid''' is an organic compound that is classified as a [[dicarboxylic acid]]. It is a derivative of [[glutaconic acid]] with a methyl group attached to the third carbon of the carbon chain. This compound is of particular interest in the field of [[biochemistry]] and [[medicine]] due to its association with various metabolic disorders.
+[[File:3-methylglutaconic_acid.svg|thumb|right|Chemical structure of 3-Methylglutaconic acid]]
-==Structure and Properties==
+'''3-Methylglutaconic acid''' is an organic compound that is classified as a dicarboxylic acid. It is a derivative of [[glutaconic acid]] with a methyl group attached to the third carbon of the pentadiene chain. This compound is of particular interest in the field of [[biochemistry]] and [[medicine]] due to its role in certain metabolic disorders.
--Methylglutaconic acid has the chemical formula C<sub>6</sub>H<sub>10</sub>O<sub>4</sub>. It contains two carboxylic acid groups (-COOH) and a methyl group (-CH<sub>3</sub>) attached to the third carbon of the pentane chain. The presence of these functional groups contributes to its acidic properties and its role in metabolic pathways.
-==Biological Role==
+== Structure and Properties ==
-In the human body, 3-methylglutaconic acid is involved in the [[metabolism]] of certain amino acids and lipids. It is a byproduct of the [[leucine]] degradation pathway. Under normal circumstances, it is present in small amounts in the [[urine]]. However, elevated levels of 3-methylglutaconic acid can indicate metabolic dysfunction.
-==Associated Disorders==
+-Methylglutaconic acid has the chemical formula C<sub>6</sub>H<sub>10</sub>O<sub>4</sub>. It consists of a five-carbon chain with two carboxylic acid groups and a methyl group attached to the third carbon. The presence of the methyl group distinguishes it from [[glutaconic acid]].
-Elevated levels of 3-methylglutaconic acid in the urine are a hallmark of a group of metabolic disorders known as [[3-methylglutaconic aciduria]] (3-MGA). These disorders are characterized by defects in mitochondrial function and can lead to a variety of symptoms, including developmental delay, muscle weakness, and neurological issues. There are several types of 3-MGA, each associated with different genetic mutations and clinical presentations.
-==Diagnosis and Testing==
+The compound is typically found in its anionic form, 3-methylglutaconate, under physiological conditions. It is a colorless solid that is soluble in water and exhibits typical acidic properties.
-The diagnosis of disorders associated with 3-methylglutaconic acid is typically made through [[urine organic acid analysis]] using techniques such as [[gas chromatography-mass spectrometry]] (GC-MS). This allows for the detection and quantification of 3-methylglutaconic acid and other metabolites that may be elevated in these conditions.
-==Treatment==
+== Biological Role ==
-There is no specific cure for disorders associated with elevated 3-methylglutaconic acid. Treatment is generally supportive and may include dietary modifications, supplementation with [[coenzyme Q10]], and management of symptoms. Genetic counseling may also be recommended for affected families.
-==Related pages==
+In the human body, 3-methylglutaconic acid is an intermediate in the [[metabolism]] of certain amino acids, including [[leucine]]. It is produced in the [[mitochondria]] and is involved in the [[tricarboxylic acid cycle]] (TCA cycle), also known as the [[Krebs cycle]].
-* [[3-Methylglutaconic aciduria]]
+== Clinical Significance ==
+Elevated levels of 3-methylglutaconic acid in the urine are associated with a group of metabolic disorders known as 3-methylglutaconic aciduria (3-MGA). These disorders are characterized by defects in mitochondrial function and can lead to a variety of symptoms, including developmental delay, muscle weakness, and neurological problems.
+There are several types of 3-methylglutaconic aciduria, each with different genetic causes and clinical presentations. These include:
+* '''Type I''': Caused by mutations in the AUH gene, which encodes an enzyme involved in leucine metabolism.
+* '''Type II (Barth syndrome)''': A rare X-linked disorder affecting mitochondrial function, often associated with cardiomyopathy and neutropenia.
+* '''Type III (Costeff syndrome)''': Characterized by optic atrophy and neurological symptoms, linked to mutations in the OPA3 gene.
+== Diagnosis and Treatment ==
+Diagnosis of 3-methylglutaconic aciduria is typically made through [[urine]] organic acid analysis using [[gas chromatography-mass spectrometry]] (GC-MS). Genetic testing can confirm the specific type of the disorder.
+Treatment is largely supportive and may include dietary management, physical therapy, and medications to manage symptoms. In some cases, [[coenzyme Q10]] supplementation has been used to support mitochondrial function.
+== Related Pages ==
+* [[Glutaconic acid]]
 * [[Mitochondrial disease]]
 * [[Organic acidemia]]
 * [[Metabolic disorder]]
-==Gallery==
+{{Metabolism}}
-<gallery>
+{{Organic compounds}}
-File:3-methylglutaconic_acid.svg|Structural formula of 3-Methylglutaconic acid
-</gallery>
 [[Category:Organic acids]]
 [[Category:Metabolic disorders]]
-[[Category:Biochemistry]]