Orphan Europe Carbaglu® Surveillance Protocol

The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food and Drug Administration (FDA) for treatment of acute hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency. Much of the FDA-required data is already collected through the Longitudinal Study of Urea Cycle Disorders (RDCRN Protocol #5101). This study will collect additional data on adverse events (interim events), adverse reactions, pregnancy, and fetal outcomes.

Inclusion Criteria:

- Confirmed diagnosis of NAGS deficiency or suspicion of NAGS deficiency

- Carbaglu intake for the treatment of NAGS

- Enrolled in the Longitudinal Study of Urea Cycle Disorders (RDCRN protocol #5101)

Exclusion Criteria:

- Cases of hyperammonemia caused by other urea cycle disorders

- Organic acidemia, lysinuric protein intolerance

- Mitochondrial disorders

- Congenital lactic acidemia,

- Fatty acid oxidation defects

- Primary liver disease will be excluded

- Individuals with extreme low birth weight (<1,500 grams) will be also excluded.

Conditions:
• Urea Cycle Disorders, Inborn