N-acetylglutamate synthase deficiency

info · Genetic

A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.

Signs and symptoms

Lethargy
Respiratory distress
Seizure
Hyperammonemia
Hyperglutamatemia
Hyperglutaminemia
Reduced hepatic N-acetylglutamate synthase activity
Low plasma citrulline
Coma
Confusion

Also known as: N-acetyl glutamate synthetase deficiency; N-acetylglutamate synthetase deficiency; NAG synthetase deficiency; NAGS deficiency; hyperammonemia due to N-acetylglutamate synthase deficiency