Treatment of phenylalanine hydroxylase deficiency.

  title={Treatment of phenylalanine hydroxylase deficiency.},
  author={Isabel Smith},
  journal={Acta paediatrica (Oslo, Norway : 1992). Supplement},
  • Isabel Smith
  • Published 1994 in
    Acta paediatrica (Oslo, Norway : 1992…
In phenylalanine hydroxylase deficiency detected by screening treatment in early life, both age at start of treatment and phenylalanine control during treatment are the major determinants of eventual psychological status. The influence of phenylalanine control declines with age but executive performance is influenced by hyperphenylalaninaemia at all ages. In a few subjects neurological deterioration has been reported years after relaxing or stopping treatment. MRI changes in brain white matter… CONTINUE READING

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