Inborn disorders of tetrahydrobiopterin metabolism: clinical features and diagnosis
Abstract
Clinical cases of rare inborn neurometabolic diseases associated with tetrahydrobiopterin metabolic disorders are given. Such diseases are usually detected by mass neonatal screening for phenylketonuria, some of them are characterized by hyperphenylalaninemia. Effective treatment methods were developed for such diseases, diagnostic protocols for hyperphenylalaninemia were revised. We studied biopterin profile in blood and urine of 49 patients with hyperphenylalaninemia, and in 3 patients with tetrahydropterin-deficient syndrome. Clinical features and diagnostics were described.
About the Authors
N. A. Pichkur
Orphan Diseases Center, National Children’s Specialized Hospital «Okhmatdet» of Ministry of Health of Ukraine
Russian Federation
Russian Federation
N. V. Ol`khovich
Orphan Diseases Center, National Children’s Specialized Hospital «Okhmatdet» of Ministry of Health of Ukraine
Russian Federation
Russian Federation
N. S. Trofimova
Orphan Diseases Center, National Children’s Specialized Hospital «Okhmatdet» of Ministry of Health of Ukraine
Russian Federation
Russian Federation
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Review
For citations:
Pichkur N.A., Ol`khovich N.V., Trofimova N.S. Inborn disorders of tetrahydrobiopterin metabolism: clinical features and diagnosis. Medical Genetics. 2017;16(7):36-41. (In Russ.)
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