Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

Pterin-4a-carbinolamine dehydratase (PCD) is required for efficient tetrahydrobiopterin regeneration after phenylalanine hydroxylase activity. This catalytic function was proposed to be specifically defective in newborns with a mild form of hyperphenylalaninemia (HPA) and persistent high urinary lev...

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Detalhes bibliográficos
Main Authors: Thöny, B, Neuheiser, F, Kierat, L, Blaskovics, M, Arn, P H, Ferreira, P, Rebrin, I, Ayling, J, Blau, N
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377166/
https://ncbi.nlm.nih.gov/pubmed/9585615
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