Results of Long Term Treatment in Case of Dihydrobiopterin Synthetase Deficiency

Abstract

In order to induce biologiial effects which are conditioned by IL-2, it is required to combine it w~th a s ecific membrane rece tor It may be assumed with great robabili that tRe IL-2R and its modPulation can be included in uncontroted grow% of leukemic cel!s. That is why it has been dec~ded to examine expression of N a t i o n a l R e s e a r c h I n s t i t u t e o f Mother a n d C h i l d , Warsaw, P o l a n d P a t i e n t R.M. -a boy t r e a t e d f o r p h e n y l k e t o n u r i a s i nc e t h e a g e of 3 weeks w i t h v e r y good d i e t a r y c o n t r o l . At a g e o f 5 months a d m i t t e d t o t h e c l i n i c b e c a u s e of psychomotor r e t a r d a t i o n . M u s c u l a r h y p o t o n i a and c o nv u l s i o n s were o b s e r v e d . D i a g n o s t i c e x a m i n a t i o n s f o r a t y p t f i a l PKUihBH l o a d i n g t e s t / w i t h e v i d e n t d e c r e a s e i n 4 end 8 h$ur/, a n a l y s i s o f b i o p t e r i n s i n t h e u r i n e / h i g h n e o p t e r i n , low b i o p t e r i n / p o i n t e d f o r t h e d e f e c t i n d i h y d r o b i o p t e r i n s y n t h e s i s . T r e a t m e n t w i t h Dopa + C a r b i d o p a and 5HT was i n t r o d u c e d and a t a g e o f 1 y e a r s u p p l e m e n t a t i o n w i t h BH a l l o w e d t o w i t h d r a w low phe d i e t and t o d e c r e a s e t 8 e d o s e s of d r u g s /Dopa between 7-9mg/kg bw., 5HT 3-5 and now 8,9mg/kg bw., BH 20-30mg/24h/.During 6 y e a r s o b s e r v a t i o n p e r i o d , a l f i o s t f u l l n o r m a l i s a t i o n i n psychomotor development was o b s e r v e d . DQ from t h e l o w e s t 4 9 i n c r e a s e d and s i n c e t h e a g e 3