N-Acetylglutamate Synthetase Deficiency is a rare autosomal recessive disorder that affects the urea cycle, impairing the body's ability to remove ammonia from the bloodstream. It is estimated to occur in approximately 1 in every 1 million individuals worldwide. The condition is characterized by hyperammonemia, leading to neurological symptoms and potential life-threatening complications. Early diagnosis and treatment are crucial to prevent severe outcomes. Genetic testing can confirm the presence of N-Acetylglutamate Synthetase Deficiency, allowing for appropriate management strategies to be implemented.
N-Acetylglutamate Synthetase Deficiency (NAGS deficiency) is an extremely rare genetic disorder that affects the urea cycle, a process responsible for removing toxic ammonia from the body. This condition is caused by mutations in the NAGS gene, which leads to a deficiency in the enzyme N-acetylglutamate synthetase.
The exact prevalence of NAGS deficiency is not well-established due to its rarity, but it is estimated to affect approximately 1 in every 1-2 million individuals worldwide. The disorder is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
NAGS deficiency can present in infancy or early childhood and is characterized by episodes of hyperammonemia, a condition where ammonia levels in the blood become dangerously high. Symptoms may include vomiting, lethargy, seizures, and developmental delays. Prompt diagnosis and treatment are crucial to prevent life-threatening complications.
Treatment for NAGS deficiency often involves a low-protein diet, medications to reduce ammonia levels, and in some cases, supplementation with N-carbamylglutamate. In severe cases, liver transplantation may be necessary.
Given its rarity, awareness and understanding of NAGS deficiency among healthcare professionals are essential for early detection and appropriate management of affected individuals.