Urea cycle disorders.

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 ...

"Overcoming barriers: new developments and future directions for urea cycle disorders.". Introduction.

Current strategies for the management of neonatal urea cycle disorders.

The treatment of newborns with urea cycle disorders has evolved over the years into a complex multidisciplinary effort. The complexity derives from the number of issues that must be addressed simultaneously. At the Urea Cycle Disorders Consensus Meeting held in Washington, D.C., a panel of physicians and other professionals with extensive experience in this field was assembled to bring some sys...

Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting

Disorders of the urea cycle are secondary to a defect in the system that converts ammonia into urea, resulting in accumulation of ammonia and other products. This results in encephalopathy, coma, and death if not recognized and treated rapidly. Late-onset urea cycle disorders may be precipitated by acute disease and can be difficult to recognize because patients are already ill. Diagnosis of ur...

Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, a...

Molecular diagnosis of urea cycle disorders: current global scenario.

Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammonemia, metabolic alkalosis and clinical features of encephalopathy. These are among the commonest types of inborn errors of metabolism with a frequency of 1 in 8,000 to 1 in 30,000 in different population. This encompasses 5 major disorders, corresponding with deficiency of each step in the urea cycle, nam...