Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity
of the enzymes involved in urea synthesis. Localized short-TE proton MR spectroscopy …

We present brain MR images in three patients with neonatal-onset hyperammonemic
encephalopathy resulting from urea-cycle disorders (two sisters with deficiency of the …

Urea cycle defect: a case with MR and CT findings resembling infarct Page 1 Pediatr Radiol
(1991) 21:594-595 Pediatric Radiology 9 Springer-Verlag 1991 Urea cycle defect: a case with …

Late-onset urea cycle disorders are characterized by chronic encephalopathy and a risk of
hyperammonemic crises triggered by environmental stressors. Reported here is the case of …

High resolution proton nuclear magnetic resonance spectroscopy (1 H-NMR) has been used
to study patients with inborn errors of the urea cycle to evaluate further the diagnostic …

Background Urea cycle disorders encompass several enzyme deficiencies that can result in
cerebral damage, with a wide clinical spectrum from asymptomatic to severe. Objective The …

Urea cycle disorders (UCD) represent a group of rare inborn errors of metabolism that carry
a high risk of mortality and neurological morbidity resulting from the effects of accumulation …

The urea-cycle functions to facilitate ammonia excretion, a disruption of which results in the
accumulation of toxic metabolites. The neurological outcome of neonatal-onset urea-cycle …

Inborn defects of urea synthesis, leading to hyperammonemia, are complex inherited
disorders, whose structural sequelae in different tissues and organs have not yet been …

We studied 26 children with inborn errors of urea synthesis who survived neonatal
hyperammonemic coma. There was a 92 per cent one-year survival rate associated with …