Metabolic Resources by State
View this page for metabolic information and resources, listed by state.
Urea Cycle Disorders
Treatment Protocol for Incurrent Hyperammonemia Consent for treatment of UCD with an experimental drug top
Favorable results have been reported regarding the investigational orphan drug nitisinone (Orfadin) as an experimental treatment for tyrosinemia type I. This drug is a protein inhibitor of 4-hydroxyphenylpyruvate dioxygenase that reduces the formation of toxic metabolites associated with tyrosinemia type I. It is produced by Rare Disease Therapeutics, Inc., and may be approved for marketing in the United States in 2001 or thereafter. Physicians wishing to obtain the drug while it remains experimental may contact the manufacturer at:
Rare Disease Therapeutics, Inc.
1101 Kermit Drive, Suite 608
Nashville, TN 37271
Tel: 615 399-0700
Fax: 615 399-1217
Handling Tissues for Molecular Diagnosis
Protocol for a Patient Dying of Suspected Metabolic Disorder