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BIOCHEMICAL AND MOLECULAR GENETIC DIAGNOSIS OF TYROSINEMIA, TYPE 1 IN RUSSIAN PATIENTS


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Abstract

Tyrosinemia type 1 (OMIM 276700, E70.2) is a rare hereditary form of the disorder of metabolism caused by the deterioration of tyrosine metabolism emerging due to pathological change in the reference sequence of the FAH gene coding fumarylacetatoacetate hydrolase. The reduced activity of this enzyme leads to the accumulation of a maleylacetoacetate, fumarylacetatoacetate and their derivatives: succinylacetatoacetate and succinylacetone which exert toxic effect on tissues of human body especially on liver and kidneys cells. Implementation of the method of tandem mass-spectrometry allowed to carry out early screening diagnostics of tyrosinemia type 1 in dry blood spots, both to save significantly staff and timing resources and avoid difficulties due to biomaterial transportation and storage. Molecular and genetic methods allowed to reveal new mutations and mutations common for Russian patients, also they made possible to carry out genetic counseling in families with the use of prenatal and pre-implantation diagnostics that in turn allowed to carry to term and give birth to three healthy children in families with family history. The presented changes of tyrosine and succinylacetone concentrations in blood of the examined patients before and during treatment showed modern options of the personified pathogenetic treatment and nutritional management of the tyrosinemia type 1 patients


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