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Nenad Blau
The Hyperphenyalaninemias
A Differential Diagnosis and International Database of Tetrahydrobiopterin Deficiencies |
| The present book deals with the different aspects of hyperphenylalaninemia, specifically tetrahydrobiopterin, deficiency. This group of inborn errors of metabolism is characterized by an insufficient hydroxylation of phenylalanine, causing its accumulation in tissues and body fluids. The primary enzyme defect could be either in the apoenzyme phenylalanine hydroxylase, or in one of the enzymes involved in the biosynthesis or regeneration of the coenzyme, tetrahydrobiopterin. Tetrahydrobiopterin is also a cofactor of nitric oxide synthase, tyrosine hydroxylase, and trytophan hydroxylase, the latter two being rate limiting enzymes in the biosynthesis of the catecholamines and serotonin. Therefore hyperphenylalaninemia is in most cases accompanied by neurotransmitter deficiency. This work summarizes the present knowledge in biochemistry, pathophysiology, and differential diagnosis of various forms of hyperphenylalaninemia, with a discussion of the original data from the author’s research group. |
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ISBN
978-3-89608-967-0
76 Seiten, Paperback
Tectum Verlag
1996
Preis:
21,90 € *
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