Argininosuccinic aciduria: Neonatal case report

Urea cycle defects are inborn errors of metabolism produced by a defect in one of the enzymes responsible for the detoxification of ammonia, which generates its accumulation in the body. The clinical manifestations can present early, with high morbidity and mortality, or late onset. The heterogeneity of the symptoms and the lack of clinical suspicion in neonates leads to a wrong diagnosis, which can be confused with neonatal sepsis or cerebral hemorrhages. The increase in plasma ammonia in the biochemical examination orients his diagnosis towards a defect of the urea cycle. Argininosuccinic aciduria is the third most frequent defect of the urea cycle,and is caused by a argininosuccinate lyase deficiency. A neonatal onset case report is presented. The objective is to emphasize its diagnostic suspicion, and to propose early diagnostic tools such as its incorporation into the neonatal metabolic screening.

Automated summary

Urea cycle defects are inborn errors of metabolism caused by enzyme deficiencies, leading to ammonia accumulation. Clinical manifestations can be early or late onset, with clinical suspicion often lacking in neonates. Increased plasma ammonia levels can indicate a urea cycle defect, and early diagnosis is crucial for effective treatment, with disorders like argininosuccinic aciduria being common and requiring early detection.