Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-threatening hereditary disease caused by biallelic mutations in the CA5A gene, presenting as encephalopathic hyperammonemia of unexplained origin during the neonatal period and infancy. Here, we present a detailed description of a 5-year-old patient with the homozygous mutation p.Lys185Lys (c.555G>A) in the CA5A gene. This variant was previously described by van Karnebeek et al. in 2014 in a boy of Russian origin. We found a high frequency of carriers of this mutation in Russia; 1:213, which is 7 times higher than the expected frequency calculated based on data on Western European populations. Thus, targeted testing for the mutation p.Lys185Lys (c.555G>A) in the CA5A gene should be useful for early detection by selective screening in neonatal intensive care units.

Synthesis of Sorption Materials from Low Grade Titanium Raw Materials.

In this paper, a universal technology is proposed for processing low-titanium mineral raw material-apatite-nepheline ore waste, including its treatment with sulfuric or hydrochloric acid in a two-stage mode with a sequential increase in the concentration. This technique allowed us to remove nepheline and apatite in the first stage and achieve a titanium mineral content of TiO2 of more than 30%; in the second stage, we were able to convert the titanium into its precursors-titanyl sulfate monohydrate TiOSO4·H2O and a hybrid rutile-silica composition. The key stage in the sorbent synthesis is the reaction of the precursor with a phosphoric acid solution. The preferred sequence of operations begins with the mechanical activation of the precursor, causing morphological changes in it, and subsequent treatment with phosphoric acid at different concentrations under atmospheric conditions and in an autoclave, accompanied by phase transformations. Conditions for the chemical reactions which regulated the composition and structure of the final product and, accordingly, its sorption activity were found. With the help of XFA, the phase compositions of the sorbents were identified, including the individual crystalline phase α-TiP obtained from TS or the crystalline phase αTi(HPO4)2∙H2O, which is in an amorphous silica matrix obtained from a rutile-silica composition.

Mineral Layer Fillers for the Production of Functional Materials.

An original method based on the use of technogenic waste from the processing of mineral-layered materials, in particular phlogopite for obtaining highly efficient functional compositions of the "mica-TiO2", has been developed. The composition core is a nanosized mica flake coated with mesoporous titanium dioxide of an anatase or rutile structure. Energy-saving and environmentally friendly technological methods are based on the splitting of the mica followed by heterogeneous electrohydrolysis of a mixture of titanium (IV) sulfate solution and flake particles. No destruction of the mica surface, which provided the obtained uniform coatings, has been observed. Such coatings are used in photocatalysis processes and possess a self-cleaning capability. Core-shell compositions are more economically attractive compared with titanium dioxide, in particular TiO2 grade P25 (Degusse). The core of the transparent flake and the shell of the rutile titanium dioxide endows the final product with a pearlescent optical effect. This type of material is widely used in the manufacturing of paints and varnishes, printing inks, cosmetics, etc. The use of technogenic waste could significantly reduce the cost of the final product, which would ensure its widespread use in various industries.

Titanite-Containing Mineral Compositions and Their Chemical Treatment with Preparation of Functional Materials.

The waste of apatite-nepheline ore processing was chosen as the material of study for the present investigation. The chemical and phase compositions have been analyzed and the route of the new technology has been developed. Treatment of the waste with diluted hydrochloric acid enables to separate apatite, nepheline, titano-magnetite minerals from titanite (CaSiTiO5). The obtained titanite concentrate contains 30-32% of titanium dioxide. Interaction of titanite with hydrochloric acid under heating and stirring conditions results in calcium leaching. The titanite decomposition is accompanied by titanium and silica oxides precipitation. The resulting solid has been used as a precursor for the synthesis of functional materials. Mechanochemical activation of the precursor provides the structural and morphological disorder of the initial particles. Thermodynamic stability of activated particles is achieved by chemisorption or roasting.