You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
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
Tetrahydrobiopterin Deficiency Resources
NORD Member Organizations:
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at email@example.com.)
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1987, 1990, 1995, 1999, 2003
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.