CDAII stands for "Cytidine deaminase 2 deficiency," which is a rare genetic disorder characterized by a deficiency in the enzyme cytidine deaminase II.
Cytidine deaminase II is an enzyme that plays a crucial role in the metabolism of nucleotides, specifically in the conversion of cytidine to uridine. This process is vital for the proper functioning of various cellular processes, including DNA synthesis and repair.
Individuals with CDAII have a mutation in the CDA gene, which leads to a reduced or absent activity of cytidine deaminase II. As a result, cytidine cannot be effectively converted to uridine, leading to an accumulation of cytidine in various tissues and body fluids.
The buildup of cytidine can have adverse effects on the body, particularly in the central nervous system and hematopoietic system. Symptoms of CDAII may include anemia, neurological abnormalities, developmental delay, intellectual disability, and seizures. Additionally, affected individuals may experience liver dysfunction, gastrointestinal problems, and immune system abnormalities.
The diagnosis of CDAII is typically made through genetic testing that identifies mutations in the CDA gene. Treatment options for CDAII are limited, and management mainly focuses on relieving symptoms and complications as they arise. Regular monitoring and intervention may be necessary to address the various complications associated with the disorder.
