Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview

Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variab...

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Autores principales:	O. V. Bugun, N. N. Martynovich, G. P. Bogonosova, T. A. Astahova, L. V. Rychkova
Formato:	article
Lenguaje:	RU
Publicado:	Scientific Сentre for Family Health and Human Reproduction Problems 2021
Materias:	inherited metabolic diseases inborn errors of metabolism tandem mass spectrometry aminoacidopathies organic acidurias mitochondrial β-oxidation defects Science Q
Acceso en línea:	https://doaj.org/article/7f8dc3e877894ec69a8a235eebdfbd93
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spelling	oai:doaj.org-article:7f8dc3e877894ec69a8a235eebdfbd932021-11-23T06:14:46ZInherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview2541-94202587-959610.29413/ABS.2021-6.5.11https://doaj.org/article/7f8dc3e877894ec69a8a235eebdfbd932021-11-01T00:00:00Zhttps://www.actabiomedica.ru/jour/article/view/3041https://doaj.org/toc/2541-9420https://doaj.org/toc/2587-9596Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variable, but more often the damages of nervous system, heart, liver, kidneys, hyperammonemia, hypo/hyperglycemia take place. The disease can make its debut at any age, but the severe forms of the disease manifest at infancy. Early diagnosis and treatment can significantly improve the prognosis; many countries expand the list of diseases included in screening programs. At the beginning of 2021 in most regions of the Russian Federation mass newborn screening is carried out for five hereditary metabolic diseases. The age and the range of clinical manifestation are variable; therefore, knowledge of this pathology is very important both for pediatricians and therapists, and for specialized doctors. The article presents a brief description of next groups of metabolic diseases: aminoacidopathies, organic acidurias and fatty acid oxidation defects.O. V. BugunN. N. MartynovichG. P. BogonosovaT. A. AstahovaL. V. RychkovaScientific Сentre for Family Health and Human Reproduction Problemsarticleinherited metabolic diseasesinborn errors of metabolismtandem mass spectrometryaminoacidopathiesorganic aciduriasmitochondrial β-oxidation defectsScienceQRUActa Biomedica Scientifica, Vol 6, Iss 5, Pp 112-125 (2021)
institution	DOAJ
collection	DOAJ
language	RU
topic	inherited metabolic diseases inborn errors of metabolism tandem mass spectrometry aminoacidopathies organic acidurias mitochondrial β-oxidation defects Science Q
spellingShingle	inherited metabolic diseases inborn errors of metabolism tandem mass spectrometry aminoacidopathies organic acidurias mitochondrial β-oxidation defects Science Q O. V. Bugun N. N. Martynovich G. P. Bogonosova T. A. Astahova L. V. Rychkova Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview
description	Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variable, but more often the damages of nervous system, heart, liver, kidneys, hyperammonemia, hypo/hyperglycemia take place. The disease can make its debut at any age, but the severe forms of the disease manifest at infancy. Early diagnosis and treatment can significantly improve the prognosis; many countries expand the list of diseases included in screening programs. At the beginning of 2021 in most regions of the Russian Federation mass newborn screening is carried out for five hereditary metabolic diseases. The age and the range of clinical manifestation are variable; therefore, knowledge of this pathology is very important both for pediatricians and therapists, and for specialized doctors. The article presents a brief description of next groups of metabolic diseases: aminoacidopathies, organic acidurias and fatty acid oxidation defects.
format	article
author	O. V. Bugun N. N. Martynovich G. P. Bogonosova T. A. Astahova L. V. Rychkova
author_facet	O. V. Bugun N. N. Martynovich G. P. Bogonosova T. A. Astahova L. V. Rychkova
author_sort	O. V. Bugun
title	Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview
title_short	Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview
title_full	Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview
title_fullStr	Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview
title_full_unstemmed	Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview
title_sort	inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. a brief overview
publisher	Scientific Сentre for Family Health and Human Reproduction Problems
publishDate	2021
url	https://doaj.org/article/7f8dc3e877894ec69a8a235eebdfbd93
work_keys_str_mv	AT ovbugun inheritedmetabolicdiseasesaminoacidopathiesorganicacidemiadefectsofmitochondrialboxidationabriefoverview AT nnmartynovich inheritedmetabolicdiseasesaminoacidopathiesorganicacidemiadefectsofmitochondrialboxidationabriefoverview AT gpbogonosova inheritedmetabolicdiseasesaminoacidopathiesorganicacidemiadefectsofmitochondrialboxidationabriefoverview AT taastahova inheritedmetabolicdiseasesaminoacidopathiesorganicacidemiadefectsofmitochondrialboxidationabriefoverview AT lvrychkova inheritedmetabolicdiseasesaminoacidopathiesorganicacidemiadefectsofmitochondrialboxidationabriefoverview
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Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview

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