Inborn Errors of Metabolism Clinical Trial
Official title:
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Hyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators propose to determine if short-term (3 day) treatment with N-carbamylglutamate can diminish hyperammonemia by enhancing ureagenesis in these patients. The investigators propose here a short-term (3 day) trial. If it succeeds, the investigators would consider more extensive long-term studies of the drug.
- To determine whether brief (3 day) treatment with N-carbamylglutamate can improve
ureagenesis in adult healthy controls and patients with the following inborn errors of
metabolism: N-acetylglutamate synthetase deficiency, propionic acidemia, methylmalonic
acidemia, carbamylphosphate synthase deficiency, ornithine transcarbamylase deficiency
and the syndrome of hyperammonemia, hypoglycemia and hyperinsulinemia (HHH Syndrome).
- To determine if such treatment improves other indicators of abnormal nitrogen
metabolism such as elevated blood levels of glutamine, glycine and alanine.
;
Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
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