In 2012, we published guidelines summarizing and evaluating late 2011 evidence for
diagnosis and therapy of urea cycle disorders (UCDs). With 1: 35 000 estimated incidence …

Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis
due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one …

The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises
primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive …

'Supported by the National Institutes of Health (Grants HD26358, HD11134, RR00052), the
Food and Drug Administration (Grant FDR000198), the Kettering Family Foundation, and the …

Background The combination of intravenous sodium phenylacetate and sodium benzoate
has been shown to lower plasma ammonium levels and improve survival in small cohorts of …

In α1-AT deficiency, a misfolded but functionally active mutant α1-ATZ (α1-ATZ) molecule is
retained in the endoplasmic reticulum of liver cells rather than secreted into the blood and …

Alternative pathway therapy is currently an accepted treatment approach for inborn errors of
the urea cycle. This involves the long-term use of oral sodium phenylbutyrate, arginine …

Elevated blood ammonia (hyperammonemia) is believed to be a major contributor to the
neurological sequelae following severe liver disease. Ammonia is cleared via two main …

Intravenous arginine butyrate has been shown to increase fetal hemoglobin (HbF) in sickle
cell and thalassemia patients. Recently, we observed that sodium 4-phenylbutyrate, a drug …

This paper presents data obtained by questionnaires sent to local hospitals and metabolic
centres in Germany, Austria, Italy and Switzerland concerning the survival and outcome of …