Tyrosinemia type 3
Other Names for this Disease
- Tyrosinemia type III
- 4-alpha hydroxyphenylpyruvic acid oxidase deficiency
- 4-alpha hydroxyphenylpyruvate dioxygenase deficiency
- 4-hydroxyphenylpyruvate dioxygenase deficiency
- Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
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HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the
Last updated: 2/3/2010
- Tyrosinemia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=tyrosinemia. Accessed 2/3/2010.
- Genetics Home Reference (GHR) contains information on Tyrosinemia type 3. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Tyrosinemia type 3. Click on the link to view a sample search on this topic.