A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

@article{Erlandsen2001ASH,
  title={A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria},
  author={Heidi Erlandsen and Raymond C. Stevens},
  journal={Journal of Inherited Metabolic Disease},
  year={2001},
  volume={24},
  pages={213-230}
}
Deficiencies in the human enzyme phenylalanine hydroxylase (PAH) due to mutations in the PAH gene (PAH) result in the inborn error of metabolism phenylketonuria (PKU). The clinical symptom of this disease is an elevated concentration of L-phenylalanine (L-Phe) in blood serum. To prevent mental retardation due to the buildup of neurotoxic metabolites of L-Phe, patients with severe PKU must be treated with a low-L-Phe diet starting early in their life. Owing to extensive newborn screening… CONTINUE READING