[ XXXX treatment effectiveness].

@entity3007 @entity1 @entity8083 @entity935 @entity75 @entity814 @entity17510 @entity750 @entity815
@entity814 is the consequence of the deficiency of @entity8083 (BH4) - cofactor of @entity815 hydroxylation. The type of the disease depends on the metabolic defect of synthesis or regeneration of the cofactor. The secondary deficiency of neurotransmitters - @entity935 and @entity750 is the reason of very severe clinical course and @entity75 . Ten cases of @entity814 are presented: 8 of the defect of 6-pyrogronyl-tetrahydropterin synthase, 1 of @entity17510 reductase, 1 of @entity3007 cyclohydrolase. In 7 cases the diagnosis was confirmed by molecular studies. The age of the @entity1 at the time of diagnosis was from 3 weeks to 7 years. In 8 @entity1 pharmacological treatment was implemented without limitation of dietary intake of @entity815 . Treatment period was from 9 months to 18.5 years. Treatment effectiveness is differentiated and independent of the age of diagnosis. Physical development in all but one @entity1 is retarded and in all of them microcephaly is present. After treatment, mental development scores in 6 cases improved evidently (in 2 - up to normal values, in 4 - close to normal). No improvement was achieved in 2 cases (brothers). Detailed analysis of the clinical course in @entity1 with similar age of diagnosis and start of treatment and with identical genotypes revealed significant differences in clinical course and treatment effectiveness. No explanation for this fact has been found.
