Molecular diagnosis of urea cycle disorders: current global scenario.

Mutation analysis of Indian patients with urea cycle defects.

Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis. We report four cases of urea cycle defect where mutational analysis of the involved genes was performed and subsequently, prenatal diagnosis could be offered to one of the family.

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 ...

Inborn Errors of Metabolism: Advances in Diagnosis and Therapy.

Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of ma...

Neurological outcome of patients with ornithine carbamoyltransferase deficiency.

BACKGROUND Ornithine carbamoyltransferase (OCT) deficiency is the commonest of the inherited urea cycle disorders. AIMS To determine the long term neurological and cognitive outcome of continuously treated surviving patients. METHODS Twenty eight surviving children (five boys) with OCT deficiency who had been treated continuously with a low protein diet and alternative pathway therapy were ...

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