Hereditary tyrosinemia type 1 in children
Hereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe...
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Ltd. “The National Academy of Pediatric Science and Innovation”
2019-11-01
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doaj-29f8e20703384dc794587097827875cc2021-07-28T16:27:51ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282019-11-01645698310.21508/1027-4065-2019-64-5-69-83784Hereditary tyrosinemia type 1 in childrenG. V. Volynets0A. V. Nikitin1T. A. Skvortsova2Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityPirogov Russian National Research Medical UniversityPirogov Russian National Research Medical University; Morozov Children’s Municipal Clinical HospitalHereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe defect of tyrosine metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH) – the last enzyme of tyrosine catabolic pathway. Tyrosinemia type 1 is an autosomal recessive disorder. This paper presents a review of literature on the current state of diagnosticis and approaches to treatment of tyrosinemia using nitisinone and a low-protein diet, as well as the analysis of clinical manifestations and laboratory diagnostics of hereditary tyrosinemia type 1 in 17 children.https://www.ped-perinatology.ru/jour/article/view/972childrenhereditary tyrosinemiadiagnosticstreatmentclinical observations |
collection |
DOAJ |
language |
Russian |
format |
Article |
sources |
DOAJ |
author |
G. V. Volynets A. V. Nikitin T. A. Skvortsova |
spellingShingle |
G. V. Volynets A. V. Nikitin T. A. Skvortsova Hereditary tyrosinemia type 1 in children Rossijskij Vestnik Perinatologii i Pediatrii children hereditary tyrosinemia diagnostics treatment clinical observations |
author_facet |
G. V. Volynets A. V. Nikitin T. A. Skvortsova |
author_sort |
G. V. Volynets |
title |
Hereditary tyrosinemia type 1 in children |
title_short |
Hereditary tyrosinemia type 1 in children |
title_full |
Hereditary tyrosinemia type 1 in children |
title_fullStr |
Hereditary tyrosinemia type 1 in children |
title_full_unstemmed |
Hereditary tyrosinemia type 1 in children |
title_sort |
hereditary tyrosinemia type 1 in children |
publisher |
Ltd. “The National Academy of Pediatric Science and Innovation” |
series |
Rossijskij Vestnik Perinatologii i Pediatrii |
issn |
1027-4065 2500-2228 |
publishDate |
2019-11-01 |
description |
Hereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe defect of tyrosine metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH) – the last enzyme of tyrosine catabolic pathway. Tyrosinemia type 1 is an autosomal recessive disorder. This paper presents a review of literature on the current state of diagnosticis and approaches to treatment of tyrosinemia using nitisinone and a low-protein diet, as well as the analysis of clinical manifestations and laboratory diagnostics of hereditary tyrosinemia type 1 in 17 children. |
topic |
children hereditary tyrosinemia diagnostics treatment clinical observations |
url |
https://www.ped-perinatology.ru/jour/article/view/972 |
work_keys_str_mv |
AT gvvolynets hereditarytyrosinemiatype1inchildren AT avnikitin hereditarytyrosinemiatype1inchildren AT taskvortsova hereditarytyrosinemiatype1inchildren |
_version_ |
1721266168740708352 |