[Cliniko-laboratory indicators of efficiency fermento-substitution therapy of Gaucher disease in Ukraine].

The analysis of efficiency of treatment of 17 patients with Gaucher disease (GD) in Ukraine who had received fermento-substitution therapy for 2 years and more was conducted on the basis of clinical and laboratory monitoring data. Regular infusions of recombinant glucocerebroside reduced signs of hepatosplenomegaly and pancytopenia, reduced a bone pain and a bone crisis at the majority of patients with GD I type that led to considerable improvement of health state and improvement of patients life quality. Efficiency of treatment depended on regularity of drug administration, dosage and severity level of the disease at the start of the therapy.

[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].

The molecular diagnostics of 27 from 26 Ukrainian families has been performed. The common mutations in GBA gene (N370S, L444P and 84GG) accounted for up to 58% of all cases: mutation N370S was detected in 42.3% alleles, mutation L444P was observed in 15.

[The possibility of increasing the precision of biochemical diagnostics of Gaucher disease].

Estimation of chitotriosidase activity is proposed for final diagnostics of Gaucher disease. Using this method the diagnosis has not been confirmed in one patient of 25 ones with this preliminary diagnosis. The problems of complex diagnostics of Gaucher disease are discussed.

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.

In this multicentre study, we examined the prevalence of two mutations in the arylsulfatase A (ARSA) gene, i.e., c.

[Differentiation between arylsulfatase A deficiency and pseudo-deficiency].

Metachromatic leukodystrophy (MLD)--lysosomal storage disease caused arylsulfatase A (ARSA) deficiency. Biochemical diagnostic of MLD is complicated by arylsulfatase A pseudodeficiency. There is possibility of mistake in MLD diagnoses in case of pseudodeficiency ARSA and non-MLD neurological disease combination.