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NORD is grateful to David H. Tegay, DO, Assistant Professor in the Division of Medical Genetics at Stony Brook University Hospital, for assistance in the preparation of this report.
Synonyms of Tetrahydrobiopterin Deficiency
- Atypical Hyperphenylalaninemia
- Atypical PKU
- BH4 Deficiency
- Malignant Hyperphenylalaninemia
- Malignant PKU
- Tetrahydrobiopterin Regeneration
- Tetrahydrobiopterin Synthesis
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
Organizations related to Tetrahydrobiopterin Deficiency
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