Dicarboxylic aminoaciduria: Difference between revisions
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{{Infobox medical condition | |||
| name = Dicarboxylic aminoaciduria | |||
| image = [[File:Glutamatergic_Synapse.png|250px]] | |||
| caption = Glutamatergic synapse, related to amino acid metabolism | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = Elevated levels of dicarboxylic amino acids in urine | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Genetic mutation affecting amino acid transport | |||
| risks = | |||
| diagnosis = [[Urine test]] | |||
| differential = | |||
| prevention = | |||
| treatment = Dietary management | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Dicarboxylic aminoaciduria''' is a rare metabolic disorder characterized by the increased excretion of certain amino acids in the urine. This condition is caused by a deficiency in the enzyme, [[alanine-glyoxylate aminotransferase]], which is involved in the breakdown of these amino acids. | '''Dicarboxylic aminoaciduria''' is a rare metabolic disorder characterized by the increased excretion of certain amino acids in the urine. This condition is caused by a deficiency in the enzyme, [[alanine-glyoxylate aminotransferase]], which is involved in the breakdown of these amino acids. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of dicarboxylic aminoaciduria can vary greatly from person to person. Some individuals may experience no symptoms, while others may have severe neurological symptoms. Common symptoms include developmental delay, intellectual disability, seizures, and failure to thrive. | The symptoms of dicarboxylic aminoaciduria can vary greatly from person to person. Some individuals may experience no symptoms, while others may have severe neurological symptoms. Common symptoms include developmental delay, intellectual disability, seizures, and failure to thrive. | ||
== Causes == | == Causes == | ||
Dicarboxylic aminoaciduria is caused by mutations in the [[AGXT]] gene. This gene provides instructions for making the enzyme alanine-glyoxylate aminotransferase, which is involved in the breakdown of certain amino acids. When this enzyme is deficient, these amino acids build up in the body and are excreted in the urine. | Dicarboxylic aminoaciduria is caused by mutations in the [[AGXT]] gene. This gene provides instructions for making the enzyme alanine-glyoxylate aminotransferase, which is involved in the breakdown of certain amino acids. When this enzyme is deficient, these amino acids build up in the body and are excreted in the urine. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of dicarboxylic aminoaciduria is typically made through a urine test that measures the levels of certain amino acids. Genetic testing can also be used to confirm the diagnosis. | Diagnosis of dicarboxylic aminoaciduria is typically made through a urine test that measures the levels of certain amino acids. Genetic testing can also be used to confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for dicarboxylic aminoaciduria. Treatment is focused on managing the symptoms and preventing complications. This may include dietary modifications, medications to control seizures, and physical and occupational therapy to help with developmental delays. | There is currently no cure for dicarboxylic aminoaciduria. Treatment is focused on managing the symptoms and preventing complications. This may include dietary modifications, medications to control seizures, and physical and occupational therapy to help with developmental delays. | ||
== Gallery == | |||
<gallery> | |||
File:Alanine_amino_transférase.png|Alanine amino transferase enzyme structure | |||
File:Aspartate_aminotransferase_reaction.png|Aspartate aminotransferase reaction diagram | |||
</gallery> | |||
== See also == | == See also == | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Amino acid]] | * [[Amino acid]] | ||
* [[Urine test]] | * [[Urine test]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic diseases]] | [[Category:Genetic diseases]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 01:11, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Dicarboxylic aminoaciduria | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Elevated levels of dicarboxylic amino acids in urine |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation affecting amino acid transport |
| Risks | |
| Diagnosis | Urine test |
| Differential diagnosis | |
| Prevention | |
| Treatment | Dietary management |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the increased excretion of certain amino acids in the urine. This condition is caused by a deficiency in the enzyme, alanine-glyoxylate aminotransferase, which is involved in the breakdown of these amino acids.
Symptoms[edit]
The symptoms of dicarboxylic aminoaciduria can vary greatly from person to person. Some individuals may experience no symptoms, while others may have severe neurological symptoms. Common symptoms include developmental delay, intellectual disability, seizures, and failure to thrive.
Causes[edit]
Dicarboxylic aminoaciduria is caused by mutations in the AGXT gene. This gene provides instructions for making the enzyme alanine-glyoxylate aminotransferase, which is involved in the breakdown of certain amino acids. When this enzyme is deficient, these amino acids build up in the body and are excreted in the urine.
Diagnosis[edit]
Diagnosis of dicarboxylic aminoaciduria is typically made through a urine test that measures the levels of certain amino acids. Genetic testing can also be used to confirm the diagnosis.
Treatment[edit]
There is currently no cure for dicarboxylic aminoaciduria. Treatment is focused on managing the symptoms and preventing complications. This may include dietary modifications, medications to control seizures, and physical and occupational therapy to help with developmental delays.
Gallery[edit]
-
Alanine amino transferase enzyme structure -
Aspartate aminotransferase reaction diagram
See also[edit]
References[edit]
<references />
