Resources

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

Tyrosinemia

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

Acquiring Samples

Handling Tissues for Molecular Diagnosis

Protocol for a Patient Dying of Suspected Metabolic Disorder