[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.

[Markers of oxidative damage in blood of children with cystic fibrosis].

In cystic fibrosis (CF), as a result of chronic pulmonary infections and digestive malabsorption, an imbalance between the production of reactive oxygen species and their inactivation by protective systems is observed. This may cause impairment of cell metabolism and oxidative injury. The aim of this study was to examine whether markers of oxidative damage to protein (protein carbonyls) and lipids (malondialdehyde) may be modified in cystic fibrosis patients with pancreatic insufficiency.

[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.

[Evaluation of treatment and preventive care for recurrent urolithiasis in children].

Among 425 children with urolithiasis treated in the Paediatric Clinical Department of the National Research Institute of Mother and Child in Warsaw between 1976-1997, 50 of them i.e. 11.