Clinical efficacy of dry nutritional treatment products for phenylketonuria in children, adults, and pregnant women: study results

N.A. Semenova1, G.V. Baydakova1, N.V. Nikitina2, V.K. Podolina2, E.Yu. Belyashova3,&nbsp;V.N. Kuznetsova3, E.M. Kochegurova4, L.P. Andreeva5, O.N. Khaylova5, S.I. Kutsev1 1Research Centre for Medical Genetics, Moscow, Russian Federation 2Clinical and Diagnostic Center “Protection of Health of Mother and Child”, Yekaterinburg, Russian Federation 3Orenburg Regional Clinical Hospital No. 2, Orenburg, Russian Federation 4E.M. Bakunina Regional Clinical Perinatal Center, Tver, Russian Federation 5Saratov Regional Children’s Clinical Hospital, Saratov, Russian Federation Abstract Aim: to assess the efficacy of domestic nutritional treatment products for phenylketonuria (PKU) in children, adults, and pregnant women. Patients and Methods: 46 patients with verified PKU were enrolled in this open-label multicenter prospective non-controlled study. Patients were allocated to the groups depending on nutritional treatment products which were prescribed according to the Clinical Guidelines of the Ministry of Health of Russian Federation. Clinical efficacy of the products was assessed according to the Good Clinical Practice guidelines based on clinical and laboratory tests. Results: all patients taken nutritional treatment products throughout the study. No dyspepsia, abnormal poop, or allergic reactions were reported. Most patients reported on more pleasant smell and odor of the products as compared with the products taken previously. At baseline, mean phenylalanine levels were within normal limits. After the treatment, phenylalanine levels were stable&nbsp; in all patients. Clinical and biochemical tests were within normal limits. Conclusion: dry nutritional treatment products are highly effective in children, adults, and pregnant women with PKU. Keywords: phenylketonuria, specialized food, phenylalanine, mixture, products. For citation: Semenova N.A., Baydakova G.V., Nikitina N.V. et al. Clinical efficacy of dry nutritional treatment products for phenylketonuria in children, adults, and pregnant women: study results. Russian Journal of Woman and Child Health. 2019;2(4):355–360. <br

Serum cytokine profile, beta-hexosaminidase a enzymatic activity and gm<inf>2</inf> ganglioside levels in the plasma of a tay-sachs disease patient after cord blood cell transplantation and curcumin administration: A case report

Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder that occurs due to a deficiency of a β hexosaminidase A (HexA) enzyme, resulting in the accumulation of GM2 gangliosides. In this work, we analyzed the effect of umbilical cord blood cell transplantation (UCBCT) and curcumin administration on the course of the disease in a patient with adult TSD. The patient’s serum cytokine profile was determined using multiplex analysis. The level of GM2 gangliosides in plasma was determined using mass spectrometry. The enzymatic activity of HexA in the plasma of the patient was assessed using a fluorescent substrate assay. The HexA α-subunit (HexA) concentration was determined using ELISA. It was shown that both UCBCT and curcumin administration led to a change in the patient’s cytokine profile. The UCBCT resulted in an increase in the concentration of HexA in the patient’s serum and in an improvement in the patient’s neurological status. However, neither UCBCT nor curcumin were able to alter HexA activity and the level of GM2 in patient’s plasma. The data obtained indicate that UCBCT and curcumin administration can alter the immunity of a patient with TSD, reduce the level of inflammatory cytokines and thereby improve the patient’s condition