Definition: The term "aminoaciduria" comes from Hebrew roots that translate to "diseased with a disease related to amino acids." It refers to a condition where an individual's body does not properly produce or utilize certain types of amino acids, which can cause specific symptoms. Specifically, the term describes diseases in which there is an abnormal accumulation of amino acids in the body. This imbalance can affect multiple organs and tissues, leading to various symptoms such as muscle weakness, fatigue, gastrointestinal issues, and even seizures. The condition is often associated with a genetic predisposition or a deficiency in certain amino acid pathways that are normally present in the body. Common amino acids involved in this condition include glycine, valine, glutamine, asparagine, and arginine. Understanding the exact cause of an aminoaciduria requires a comprehensive evaluation of medical history and laboratory tests that assess for any associated genetic conditions or potential metabolic disorders affecting these amino acid levels. Treatment may involve adjustments to diet, supplementation with appropriate nutrients, or administration of drugs like enzymes, which can help balance certain amino acids.

aminoaciduria