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 levels in the urine. These symptoms are common to 6-pyruvoyltetrahydropterin synthase deficiency and thus there is a danger...
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