Diagnosis
Types
Type I tyrosinemia can be detected via blood tests for the presence of a fumarylacetoacetate metabolite, succinylacetone, which is considered a pathognomonic indicator for the disease.Type II tyrosinemia can be detected via the presence of significantly elevated plasma tyrosine levels, and the diagnosis can be confirmed by detection of a mutation in TAT in cultured fibroblasts.Type III tyrosinemia can be diagnosed by detection of a mutation in HPD in cultured fibroblasts. Treatment
Treatment varies depending on the specific type; a low-protein diet combined with the use of a specially engineered formula to supply protein is required in most cases. Experience with nitisinone has shown it to be effective, especially when started within the first month of life, and it is now the standard course of treatment. It is a 4-hydroxyphenylpyruvate dioxygenase inhibitor indicated for the treatment of hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine. Liver transplant is indicated for patients with tyrosinemia type I who do not respond to nitisinone, as well as those with acute liver failure and hepatomas. See also
Alkaptonuria
Inborn error of metabolism
Ochronosis

References
External links

GeneReview/NCBI/NIH/UW entry on Tyrosinemia Type 1
Tyrosinemia on Genetic Home Reference
Treatment
Liver transplant has been used in the treatment of this condition. Epidemiology
In South Africa, the prevalence of variegate porphyria is approximately 1 in 300. In Finland, the prevalence is approximately 1 in 75,000.It is also found in Argentina,  Sweden, and Australia. References
This article incorporates public domain text from The U.S. National Library of Medicine

External links

Variegate porphyria at NIHs Office of Rare Diseases