National Organization for Rare Disorders, Inc.
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.
- Atypical Hyperphenylalaninemia
- BH4 Deficiency
- Malignant Hyperphenylalaninemia
- Atypical PKU
- Malignant PKU
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:
GTP Cyclohydrolase I (GTPCH) Deficiency
6-Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency
Pterin-4-alpha-Carbinolamine Dehydratase (PCD) Deficiency
Dihydropteridine Reductase (DHPR) Deficiency
CLIMB (Children Living with Inherited Metabolic Diseases)
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NIH/National Institute of Neurological Disorders and Stroke
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Genetic and Rare Diseases (GARD) Information Center
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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
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 5/23/2008
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