Amino acid diseases are a group of metabolic disorders impacting the body's ability to utilize proteins from food for growth, energy production, and repair. Amino acids, the building blocks of proteins, become harmful when they accumulate excessively in the body due to metabolic errors. These disorders are typically hereditary, meaning they're passed down through families.
Types of Amino Acid Diseases
Several specific amino acid diseases exist, including but not limited to:
- Phenylketonuria (PKU): This well-known disorder prevents the body from properly processing phenylalanine, an amino acid.
- Maple Syrup Urine Disease: This condition affects the breakdown of branched-chain amino acids (leucine, isoleucine, and valine). It's named for the distinctive sweet odor of affected infants' urine.
- Argininemia: A disorder involving the accumulation of arginine due to arginase deficiency.
- Argininosuccinic Aciduria: Characterized by the buildup of argininosuccinic acid.
- Citrullinemia: Results from a deficiency of the enzyme argininosuccinate synthetase, causing increased blood ammonia levels. There are different types, such as Citrullinemia type I (CIT-I).
- Other Disorders: Many other less common amino acid disorders exist, affecting various amino acid metabolic pathways. These can include benign hyperphenylalaninemia and biopterin defects in cofactor biosynthesis.
These disorders are caused by genetic defects in enzymes crucial for amino acid metabolism. Consequently, specific amino acids cannot be broken down or used appropriately, leading to their accumulation in blood and tissues. This accumulation can have serious consequences, affecting various organ systems and potentially leading to developmental delays, intellectual disability, or even death if left untreated. Early diagnosis and proper management, often involving dietary restrictions and specialized therapies, are crucial for mitigating the adverse effects of these disorders.
MedlinePlus provides further information on amino acid metabolism disorders, including PKU and maple syrup urine disease. The California Department of Public Health (https://www.cdph.ca.gov/Programs/CFH/DGDS) also lists several specific amino acid disorders. Further research into specific diseases is recommended.
