Important It is possible that the main title of the report Tetrahydrobiopterin Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Tetrahydrobiopterin Deficiency is a rare genetic, neurological disorder present at birth. It is caused by an inherited inborn error of metabolism. Tetrahydrobiopterin is a natural substance (coenzyme) that enhances the action of other enzymes. When Tetrahydrobiopterin is deficient, an abnormally high blood level of the amino acid phenylalanine, along with low levels of certain neurotransmitters, usually occurs. To avoid irreversible neurological damage, diagnosis and treatment of this progressive disorder is essential as early as possible in life.
The subdivisions of Tetrahydrobiopterin Deficiency are as follows: Tetrahydrobiopterin Synthesis GTP Cyclohydrolase I (GTPCH) Deficiency 6-Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency Tetrahydrobiopterin Regeneration Pterin-4-alpha-Carbinolamine Dehydratase (PCD) Deficiency Dihydropteridine Reductase (DHPR) Deficiency
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 5/23/2008 Copyright 1987, 1990, 1995, 1999, 2003 National Organization for Rare Disorders, Inc.
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