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
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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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.