›Avoid high-protein foods (meat, dairy, legumes in large quantities)
›Natural protein intake individualized by metabolic dietitian
›Avoid prolonged fasting to prevent hypoglycemia
Acute liver failure management
›Vitamin K
›Vitamin K1 IV 1-10 mg depending on age and weight
›Phytonadione 0.1 mg/kg IV (max 10 mg) for documented deficiency
›Administer over 30 minutes to avoid anaphylaxis
›INR response assessment at 4 hours
›Failure to respond suggests intrinsic hepatic synthetic failure rather than vitamin K deficiency
›Fresh frozen plasma
›10-15 ml/kg IV for active bleeding with coagulopathy
›Repeat INR and fibrinogen 1 hour after infusion
›Bridge therapy pending liver transplantation
›Glucose maintenance
›D10 in 0.45% NaCl at 1.5x maintenance for infants with hepatic failure
›Target blood glucose 4-8 mmol/L
›Point-of-care glucose monitoring every 1-2 hours
Neurologic crisis management
›Analgesia for abdominal pain
›Opioid analgesia (morphine 0.05-0.1 mg/kg IV every 4 hours PRN)
›Pain control reduces sympathetic stress and autonomic instability
›Avoid NSAIDs in coagulopathic patient
›IV glucose to suppress delta-aminolevulinic acid production
›High glucose intake reduces ALA synthase induction
›D10 infusion at 8-10 mg/kg/min glucose delivery rate
›Nitisinone optimization
›Ensure therapeutic nitisinone levels — check trough
›Nitisinone suppresses succinylacetone and secondarily reduces ALA/porphyrin precursors
›IV hemin (hematin) for refractory crisis
›Hemin 3-4 mg/kg IV daily for 4 days for severe porphyria-like crisis
›Suppresses ALA synthase directly
›Administer via central line (phlebitis risk with peripheral access)
›Electrolyte correction
›Hyponatremia (SIADH)
›Fluid restriction as first-line if sodium >=125 mmol/L and asymptomatic
›3% NaCl 1-2 ml/kg IV over 20 minutes if symptomatic (seizures, altered mental status)
›Target correction rate <8-12 mmol/L per 24 hours to avoid osmotic demyelination
Renal and bone disease management
›Fanconi syndrome supportive care
›Oral phosphate supplementation
›30-90 mg/kg/day elemental phosphorus in divided doses
›Monitor serum phosphate every 1-3 months
›Vitamin D supplementation
›Calcitriol (active vitamin D) 0.01-0.05 mcg/kg/day orally
›Ergocalciferol or cholecalciferol if standard supplementation adequate
›Hypertension management
›ACE inhibitor first-line for renal hypertension
›Enalapril 0.1-0.5 mg/kg/day orally (pediatric dosing)
›Renoprotective benefit in tubular dysfunction
›Monitor potassium and creatinine at initiation
›Indications for transplantation
›Acute liver failure unresponsive to nitisinone therapy
›PELD score >20 or encephalopathy grade III-IV
›INR >4 unresponsive to FFP and vitamin K
›Hepatocellular carcinoma development despite nitisinone
›Single nodule <5 cm or meeting Milan criteria without extrahepatic disease
›Transplantation curative if within criteria
›Post-transplant considerations
›Low-dose nitisinone post-transplant
›0.1 mg/kg/day to prevent ongoing renal and neurologic damage from residual succinylacetone
›Liver transplant corrects hepatic disease but not renal or neurologic enzyme deficiency
›Lifelong surveillance for renal and neurologic complications post-transplant