How Do You Spell ARGININEMIA?

1. Argininemia is a rare genetic disorder characterized by the deficiency or absence of the enzyme arginase, which is responsible for breaking down arginine, an amino acid found in proteins. This metabolic disorder leads to the accumulation of arginine and its toxic byproducts in the blood and tissues.

   Argininemia is an autosomal recessive disorder, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. The symptoms of argininemia may vary in severity and can appear during infancy or early childhood. Common signs of argininemia include developmental delay, intellectual disability, seizures, spasticity, and impaired growth.

   Diagnostic tests for argininemia typically involve analyzing blood or urine samples to measure the levels of arginine and other amino acids. Genetic testing can also be conducted to confirm the presence of arginase deficiency.

   Treatment for argininemia primarily focuses on managing the excess arginine levels in the body. This can be achieved through a specialized diet low in arginine and high in other essential amino acids. Supplementation with certain drugs, such as phenylbutyrate, may also help to reduce the toxic effects of arginine accumulation. Regular monitoring and follow-up examinations are necessary to assess the effectiveness of treatment and manage any potential complications.

   Early detection and proper management of argininemia are crucial to prevent long-term complications and improve the quality of life for affected individuals. Genetic counseling can also be valuable for families with a history of argininemia, helping them understand the risks and make informed decisions regarding family planning.

Common Misspellings for ARGININEMIA

The word "Argininemia" is a medical term that originates from a combination of two components: "arginin-" and "-emia".

The term "arginin-" refers to the amino acid "arginine". Arginine is an essential amino acid that plays a crucial role in protein synthesis and various metabolic processes in the human body.

The suffix "-emia" is derived from the Greek word "haima", which means "blood". "-emia" is commonly used in medical terminology to indicate a condition or presence of a substance in the blood. It is often associated with disorders or abnormalities.

Therefore, "Argininemia" is a medical term used to describe a rare genetic disorder known as "arginase deficiency". This disorder leads to the accumulation of arginine in the blood due to the impaired functioning of the enzyme arginase.