| Diagnosis and management of tyrosinemia type I. | |
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MedLine Citation:
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PMID: 8776026 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hereditary tyrosinemia type I (HTI) (MIM 276700) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (EC 3.7.1.2), which is the last enzyme in the tyrosine degradation pathway. The enzyme block causes accumulation of toxic metabolites in the liver and kidneys, which are the organs where tyrosine is mainly degraded. The disorder is characterized by severe liver disease, which either causes liver failure in infancy or may take a more protracted course, with death often occurring during childhood or adolescence because of hepatoma development. Treatment with a diet restricted in phenylalanine nd tyrosine does not prevent progression of the liver disease and development of hepatocellular carcinoma. Liver transplantation was previously the only option for these patients. Important achievements from metabolic and molecular biology studies of the disease include a new treatment for patients with HTI using an enzyme inhibitor, detection of self-induced correction of the genetic defect in regenerative liver nodules in HTI patients, identification and development of useful animal models for HTI, and studies of the molecular genetics of HTI. These advances will have great implications for our understanding of pathogenetic mechanisms, which is the basis for improved diagnostic methods and improved treatment of patients with HTI. |
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Authors:
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E Holme; S Lindstedt |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Current opinion in pediatrics Volume: 7 ISSN: 1040-8703 ISO Abbreviation: Curr. Opin. Pediatr. Publication Date: 1995 Dec |
Date Detail:
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Created Date: 1996-12-02 Completed Date: 1996-12-02 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9000850 Medline TA: Curr Opin Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 726-32 Citation Subset: IM |
Affiliation:
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Göteborg University, Gothenburg, Sweden. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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4-Hydroxyphenylpyruvate Dioxygenase
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antagonists & inhibitors Amino Acid Metabolism, Inborn Errors / diagnosis*, therapy* Animals Cyclohexanones / therapeutic use Disease Models, Animal Enzyme Inhibitors / therapeutic use Gene Therapy Humans Liver Transplantation Nitrobenzoates / therapeutic use Phenotype Tyrosine / blood* |
| Chemical | |
Reg. No./Substance:
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0/Cyclohexanones; 0/Enzyme Inhibitors; 0/Nitrobenzoates; 104206-65-7/nitisinone; 55520-40-6/Tyrosine; EC 1.13.11.27/4-Hydroxyphenylpyruvate Dioxygenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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