Urea Cycle Disorders in Neonates: Six Case Reports

Urea cycle disorders.

Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients. Ammonia levels above 200 micromol/l are usually caused by inherited metabolic diseases and it is essential to make a diag...

Case definition of encephalitis may misdiagnose congenital urea cycle disorders.

TO THE EDITOR—We read with interest the recent article by Venkatesan et al [1], which proposes a consensus guideline of the International Encephalitis Consortium for case definition and diagnostic algorithms in encephalitis. The authors define encephalitis as inflammation of the brain parenchyma associated with neurologic dysfunction, diagnosed on the basis of selected clinical, laboratory, ele...

Psychiatric adult-onset of urea cycle disorders: A case-series

Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teen...

Meningitis—Six Case Reports

Clinical and Biochemical Characterizations of Pediatric Patients with Urea Cycle Disorders in Upper Egypt: A Case- Control Study

Background: The diagnosis of inborn errors of metabolism is generally challenging. We aimed to explore various types of urea cycle disorders (UCDs), and their clinical presentations and biochemical findings among Egyptian pediatric patients. Materials and Methods: This case-control study was conducted on 86 participants categorized into ...