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N-acetylglutamate synthase deficiency results in an excess of ammonia in the bloodstream. This buildup of ammonia, a byproduct of protein breakdown, is harmful, particularly to the brain.
Infants with N-acetylglutamate synthase deficiency commonly show symptoms within the first few days after birth. These symptoms can include lethargy, poor feeding, and difficulty regulating breathing or body temperature. In severe cases, affected infants may experience seizures, unusual movements, or even coma. Long-term complications can include developmental delays and intellectual disabilities.
In some individuals, the signs and symptoms of N-acetylglutamate synthase deficiency manifest later in life. These individuals may notice that consuming protein-rich foods affects their well-being, though the connection may not be immediately clear. In many adults, episodes of vomiting, incoordination, headaches, confusion, behavioral changes, or coma can be triggered by illness or other stressors.
N-acetylglutamate synthase deficiency follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the gene from both parents to develop the condition. Parents who each carry a single copy of the mutated gene usually do not exhibit any signs or symptoms of the condition themselves.
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