Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

doi:10.1007/s004390050800

Article

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

Human genetics - 1 Aug 1998

Thöny B, Neuheiser F, Kierat L, Rolland M O, Guibaud P, Schlüter T, Germann R, Heidenreich R A, Duran M, de Klerk J B, Ayling J E, Blau N

Abstract excerpt

Four patients with primapterinuria, postulated to be due to pterin-4alpha-carbinolamine dehydratase (PCD) deficiency, were diagnosed by biochemical and DNA analysis. All four patients presented in the neonatal period with hyperphenylalaninemia, and elevated neopterin and decreased biopterin level...

Topics

Amino Acid Metabolism, Inborn Errors
Female
Humans
Hydro-Lyases
Infant, Newborn
Male
Mutation
Phenylalanine
Phenylketonurias
Pterins

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