Dicarboxylic aminoaciduria
Dicarboxylic Aminoaciduria
Dicarboxylic aminoaciduria (pronunciation: di-kahr-bok-sil-ik a-mee-noh-as-i-doo-ree-uh) is a rare metabolic disorder characterized by an excess of dicarboxylic amino acids in the urine.
Etymology
The term "Dicarboxylic aminoaciduria" is derived from the Greek words "di" meaning two, "carboxyl" referring to the carboxylic acid group, "amino" referring to the amino group, and "uria" meaning presence in urine.
Definition
Dicarboxylic aminoaciduria is a condition that affects the body's ability to break down certain proteins. This results in an excess of dicarboxylic amino acids in the urine. It is a type of aminoaciduria, which refers to the presence of amino acids in the urine.
Symptoms
Symptoms of dicarboxylic aminoaciduria can vary greatly among individuals. They may include developmental delay, intellectual disability, seizures, and failure to thrive.
Causes
Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. This gene provides instructions for making a protein that is involved in the transport of certain amino acids, including dicarboxylic amino acids, into cells.
Diagnosis
Diagnosis of dicarboxylic aminoaciduria is typically made through a urine test that can detect the presence of dicarboxylic amino acids. Genetic testing may also be used to confirm the diagnosis.
Treatment
Treatment for dicarboxylic aminoaciduria is typically supportive and based on the symptoms present in each individual. This may include dietary modifications, medications to manage seizures, and therapies to address developmental delays.
Related Terms
External links
- Medical encyclopedia article on Dicarboxylic aminoaciduria
- Wikipedia's article - Dicarboxylic aminoaciduria
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