How Do You Spell ACIDAMINURIA?

1. Acidaminuria is a rare inherited metabolic disorder characterized by the abnormal accumulation of certain amino acids in the body. Specifically, it refers to the excretion of excessive amounts of amino acids known as alpha-amino adipic semialdehyde (AASA) and alpha-aminoadipic acid. These amino acids are normally produced during the breakdown of lysine, an essential amino acid.

   In individuals with acidaminuria, mutations in genes involved in lysine metabolism disrupt the normal breakdown process, leading to the build-up of AASA and alpha-aminoadipic acid. As a result, these excess amino acids are excreted in the urine, hence the name acidaminuria.

   The accumulation of AASA and alpha-aminoadipic acid can have detrimental effects on various systems and organs in the body. Common symptoms of acidaminuria may include developmental delays, intellectual disability, seizures, muscle weakness, abnormal physical features, and impaired coordination. However, the severity and specific symptoms can vary greatly among affected individuals.

   Diagnosis of acidaminuria is typically confirmed through urine tests that detect the presence of excess AASA and alpha-aminoadipic acid. Genetic testing is also utilized to identify the specific mutations responsible for the disorder.

   Treatment for acidaminuria is primarily focused on symptom management and requires a multidisciplinary approach involving medical professionals such as geneticists, metabolic specialists, and neurologists. Dietary modifications, such as restricting lysine intake, may be recommended to help reduce the excessive accumulation of AASA and alpha-aminoadipic acid. In some cases, specific medications or therapies may be used to address specific symptoms or complications associated with the disorder.

2. The passage of an excess of amino-acids in the urine.

   A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.

Common Misspellings for ACIDAMINURIA

The word "acidaminuria" is derived from three different components: "acid-", "amino-", and "-uria".

1. "Acid-" comes from the Latin word "acidus", which means sour or sharp. In the context of acidaminuria, it refers to the presence of acidic compounds.

2. "Amino-" is derived from the term "amino acid", which refers to organic compounds that are the building blocks of proteins.

3. "-uria" is a suffix added to denote a condition or presence of a substance in the urine. It is derived from the Greek word "ouron", meaning urine.

Combining these components, "acidaminuria" refers to a condition characterized by the abnormal presence of acidic amino acids in the urine.

Plural form of ACIDAMINURIA is ACIDAMINURIAS