Abstract
Hyperphenylalaninemia is a metabolic disorder characterised by an accumulation of phenylalanine which is toxic for central nervous system. We report the case of young boy, aged 3 years, affected by a BH4-deficient because of biopterin synthase deficiency. At first, when the patient was one month, he was concomitantly treated by tetrahydrobiopterin, levodopa + carbidopa, serotonin and folinic acid without dietary phenylalanine restriction. Only BH4 and folinic acid were continued after one year of follow-up. In conclusion, according to biological parameters, it was demonstrated that the patient was suffering from a peripherical form of the defiency. Diagnosis and therapeutic management were described in the article.
| Translated title of the contribution | Hyperphenylalaninemia with a peripherical deficiency of the syntnesis or tetrahydrobiopterin: Therapeutic approach |
|---|---|
| Original language | French |
| Pages (from-to) | 185-189 |
| Number of pages | 5 |
| Journal | Journal de Pharmacie Clinique |
| Volume | 25 |
| Issue number | 3 |
| Publication status | Published - 1 Jul 2006 |
| Externally published | Yes |