nitisinone (Orfadin)

Indications

• adjunct to dietary restriction of tyrosine & phenylalanine in the treatment of hereditary tyrosinemia type 1

Dosage

• 1-2 mg/kg divided into two daily doses

Capsules: 2 mg, 5 mg, 10 mg

Suspension: 4mg/mL

Monitor

• serum alpha-fetoprotein
• monitor liver with hepatic ultrasound, CT or MRI

Adverse effects

• thrombocytopenia
• leukopenia
• acute porphyria
• ocular/visual complaints, transient resolving within 1 week
• hepatic neoplasm
• liver failure

Laboratory

• nitisinone in dried blood spot

More general terms

• metabolic agent (metabolic modifier)