Dicarboxylic aminoaciduria

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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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

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

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 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

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

• 

  Alanine amino transferase enzyme structure

• 

  Aspartate aminotransferase reaction diagram

See also

• Metabolic disorder
• Amino acid
• Urine test
• Genetic testing

References

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