carglumic acid (Carbaglu)

Indications

• treatment of hyperammonemia due to N-acetylglutamate synthase deficiency

Dosage

• initial dose of 100-250 mg/kg/day in 2-4 divided doses
• adjust to maintain normal ammonia plasma levels
• maintenance doses range from 10-100 mg/kg/day
• concomitant use of other ammonia-lowering therapies is recommended during episodes of acute hyperammonemia

Monitor

• liver function tests
• renal function tests
• complete blood count (CBC)

Adverse effects

• vomiting
• abdominal pain
• diarrhea
• fever
• tonsillitis
• anemia
• ear infection
• headache

Mechanism of action

• structural analogue of N-acetylglutamate, the naturally occurring activator of carbamoyl phosphate synthetase, the 1st enzyme of the urea cycle

More general terms

• orphan drug
• metabolic agent (metabolic modifier)