Carbamoyl phosphate synthetase 1 activator (urea cycle defect)
Carglumic acid
Brand names: Carbaglu
Adult dose
Dose: Acute hyperammonaemia: 100–250mg/kg/day in divided doses; Maintenance: 10–100mg/kg/day per response
Route: Oral / dispersed
Frequency: BD–QDS
Clinical pearls
- N-acetylglutamate synthetase (NAGS) deficiency, organic acidaemias (propionic, methylmalonic, isovaleric)
- BIMDG urea cycle / organic acidaemia guidelines
- UK metabolic centre supervision
Contraindications
- Hypersensitivity
Side effects
- Sweating
- Headache
- Anaemia
- Increased liver enzymes
- GI upset
Monitoring
- Ammonia
- Plasma amino acids
- Organic acids
- LFTs
- Growth
Reference: BNF; BIMDG; ESPGHAN; SmPC; https://bnf.nice.org.uk/drugs/carglumic-acid/. Verify against your local formulary and the latest BNF before prescribing.
Related
Curated clinical cross-links plus same-class fallbacks.
Calculators
Pathways
- Sepsis Screening and Sepsis Six · UK Sepsis Trust; NICE NG51; Surviving Sepsis Campaign 2021
- Unintentional Weight Loss Workup · NICE NG12; BSG
- Chronic Fatigue Workup · NICE NG206; BMJ Best Practice
- Lymphadenopathy Workup · NICE NG12; BMJ Best Practice
- Pre-op Medical Clearance · NICE NG45; ESC 2022
- Secondary Hypertension Workup · NICE NG136; ESH 2023