[Atypical phenylketonuria treatment effectiveness].

Atypical phenylketonuria is the consequence of the deficiency of tetrahydrobiopterin (BH4) - cofactor of phenylalanine hydroxylation. The type of the disease depends on the metabolic defect of synthesis or regeneration of the cofactor. The secondary deficiency of neurotransmitters - dopamine and serotonin is the reason of very severe clinical course and brain damage.

[Serum tyrosine in children with phenylketonuria and mild hyperphenylalaninemia].

Serum tyrosine concentration, Phe/Tyr scores and psychomotor/mental development scores were analysed in 32 children with phenylketonuria (PKU) and 39 with mild hyperphenylalaninaemia. Observation period included the first 6 years of life. Tendency to tyrosine deficiency was observed; stronger in dietary treated PKU patients than in those with mild hyperphenylalaninaemia.

Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland.

Early diagnosis and treatment of phenylketonuria (PKU) in Poland was started in 1965, initially on a voluntary and then on a obligatory basis. Guthrie tests have been used for newborn screening. For confirmation of diagnosis changing with time methods of blood phenylalanine (Phe) and tyrosine estimation were used.

[Neurological status and psychomotor development of children with phenylketonuria treated early].

Low phenylalanine diet treatment in children with phenylketonuria (PKU) started sufficiently early prevents mental retardation. But the question whether the treatment prevents all c n s damage is still open. This problem was evaluated on the basis of longitudinal neurological and psychological studies of 118 PKU children in whom treatment was started before the 6-th week of life.