Ammonia intoxication due to acongenital defect in urea synthesis

Clinical and Biochemical Studies on Periodic Hyperammonemia with Hyperlysinemia and Homocitrullinuria

“…Congenital hyperammonemiae which were caused by enzymatic defects in urea synthesis have been reported these ten years under various pathologic condi tions, such as ornithine carbamyl transferase deficiency (Russell et al 1962) , carbamyl phosphate synthetase deficiency (Freeman et al 1964), argininosuccinic aciduria (Allan et al 1958), citrullinemia (McMurray et al 1963), and hyperargin inemia (Terheggen et al . 1970).…”

Metabolism of Compounds Labeled with 15N by an Infant with Congenital Hyperammonemia

“…A brief description of this patient, together with some of the data presented here, appeared elsewhere [5], as has a detailed presentation of the clinical history and general laboratory evaluation [6].…”

“…3). This finding was originally interpreted [5] as evidence of a defect in the direct incorporation of the nitrogen of ingested ammonia into urea, with consequent incorporation of abnormally large amounts of ammonium nitrogen into the pool of amino acids (presumably largely glutamine), giving rise to ammonia in the urine. This interpretation seems reasonable, particularly in view of the finding by Levin and co-workers [10] that glutamine is increased in both plasma and urine in patients with deficient hepatic ornithine transcarbamylase.…”

A Patient with Nonketotic Hyperglycinemia: Biochemical Findings and Therapeutic Approaches

“…Nonketotic hyperglycinemia, which was first described by Gerritsen et al [14], is considered to be a primary defect in the metabolism of glycine. Moreover, elevated concentrations of glycine in plasma have been found in methylmalonic acidemia [16], propionic acidemia [4], isovaleric acidemia [I], and carbamylphosphate synthetase deficiency [12].…”