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Tetrahydrobiopterin Deficiency

Abstract

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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

Disorder Subdivisions

Tetrahydrobiopterin Regeneration
Tetrahydrobiopterin Synthesis

General Discussion

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

Organizations related to Tetrahydrobiopterin Deficiency

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