SNP Shot: Genomic Insights

Carbamoyl phosphate synthetase I deficiency is a genetic condition where the body cannot properly process ammonia, leading to a buildup of ammonia in the blood (hyperammonemia). Ammonia is a toxic byproduct of protein breakdown, and high levels can be very harmful, particularly to the brain.

Newborns with carbamoyl phosphate synthetase I deficiency often show signs of hyperammonemia within the first few days of life. These signs may include excessive drowsiness, breathing problems, temperature instability, feeding difficulties, vomiting, abnormal movements, seizures, or even coma. Even after infancy, individuals with this condition can experience recurring episodes of these symptoms if their diet isn't strictly controlled or if they encounter stressors like infections. Developmental delays and intellectual disability can also occur.

The severity of carbamoyl phosphate synthetase I deficiency can vary, and some individuals may have milder symptoms that appear later in life.

Inheritance:

Carbamoyl phosphate synthetase I deficiency is an autosomal recessive disorder. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are usually unaffected carriers.