INTRODUCTION

Hereditary tyrosinemia type 1 is a serious but treatable hereditary disease that affects children. About one newborn child in 100,000 has the disorder, although geographical variation occurs.

Children born with hereditary tyrosinemia type 1 lack the ability to break down the amino acid tyrosine. As a result, toxic substances build up in the blood, causing, among other things, liver failure, kidney dysfunction and neurological crisis.

Today, effective treatment is available, primarily by medication Orfadin^® (nitisinone), also known as NTBC, and a special diet. Orfadin^® prevents the accumulation of the toxic substances, thereby rendering patients symptom-free and improve prognosis. Treatment of hereditary tyrosinemia type 1 with Orfadin^® in the last decade has dramatically altered its natural history.