Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin

J Inherit Metab Dis. 1992;15(3):405-8. doi: 10.1007/BF02435989.

Authors

C Adler¹, S Ghisla, I Rebrin, C W Heizmann, N Blau, H C Curtius

Affiliation

¹ Department of Pediatrics, University of Zurich, Switzerland.

PMID: 1405480
DOI: 10.1007/BF02435989

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Binding, Competitive
Biopterins / analogs & derivatives*
Biopterins / metabolism
Biopterins / pharmacology
Humans
Hydro-Lyases / deficiency*
Kinetics
Phenylalanine / blood*
Phenylalanine Hydroxylase / antagonists & inhibitors*
Phenylalanine Hydroxylase / metabolism

Substances

Biopterins
tetrahydroneopterin
7-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydrobiopterin
Phenylalanine
Phenylalanine Hydroxylase
Hydro-Lyases
pterin-4a-carbinolamine dehydratase