Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician
Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of central nervous system, liver, kidneys, and o...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2023-12-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3358 |
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| author | Nataliya V. Zhurkova Nato V. Vashakmadze Nataliya S. Sergienko Anastasiya N. Dudina Mariya S. Karaseva Liliya R. Selimzyanova Anna Yu. Rachkova Yuliya Yu. Kotalevskaya Andrey N. Surkov |
| author_facet | Nataliya V. Zhurkova Nato V. Vashakmadze Nataliya S. Sergienko Anastasiya N. Dudina Mariya S. Karaseva Liliya R. Selimzyanova Anna Yu. Rachkova Yuliya Yu. Kotalevskaya Andrey N. Surkov |
| author_sort | Nataliya V. Zhurkova |
| collection | DOAJ |
| description | Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of central nervous system, liver, kidneys, and other organs and systems. Hereditary urea cycle disorders occur because of enzyme deficiency leading to impaired urea synthesis and hyperammoniemia in patients. The age of disease onset and clinical manifestations severity range from milder, intermittent forms to severe, manifesting in the first hours of life. Expanded neonatal screening (implemented in Russian Federation at 01.01.2023) allows to diagnose diseases from these groups in the first days of life, to prescribe timely pathogenetic therapy. Altogether it helps to prevent the development of disease severe complications. Raising awareness about hereditary aminoacidopathies and urea cycle disorders among pediatricians, neonatologists, neurologists, gastroenterologists, ophthalmologists is a topical issue of modern pediatrics. |
| format | Article |
| id | doaj-art-7d41ce48214f4afeb551e41a2ebf626a |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2023-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-7d41ce48214f4afeb551e41a2ebf626a2025-08-20T03:01:15Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352023-12-0122656057110.15690/vsp.v22i6.27002153Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing PhysicianNataliya V. Zhurkova0Nato V. Vashakmadze1Nataliya S. Sergienko2Anastasiya N. Dudina3Mariya S. Karaseva4Liliya R. Selimzyanova5Anna Yu. Rachkova6Yuliya Yu. Kotalevskaya7Andrey N. Surkov8Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryMoscow Regional Research and Clinical Institute n.a. M.F. VladimirskiyResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityHereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of central nervous system, liver, kidneys, and other organs and systems. Hereditary urea cycle disorders occur because of enzyme deficiency leading to impaired urea synthesis and hyperammoniemia in patients. The age of disease onset and clinical manifestations severity range from milder, intermittent forms to severe, manifesting in the first hours of life. Expanded neonatal screening (implemented in Russian Federation at 01.01.2023) allows to diagnose diseases from these groups in the first days of life, to prescribe timely pathogenetic therapy. Altogether it helps to prevent the development of disease severe complications. Raising awareness about hereditary aminoacidopathies and urea cycle disorders among pediatricians, neonatologists, neurologists, gastroenterologists, ophthalmologists is a topical issue of modern pediatrics.https://vsp.spr-journal.ru/jour/article/view/3358neonatal screeningaminoacidopathyhereditary amino acid metabolism disordersurea cycle disorders |
| spellingShingle | Nataliya V. Zhurkova Nato V. Vashakmadze Nataliya S. Sergienko Anastasiya N. Dudina Mariya S. Karaseva Liliya R. Selimzyanova Anna Yu. Rachkova Yuliya Yu. Kotalevskaya Andrey N. Surkov Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician Вопросы современной педиатрии neonatal screening aminoacidopathy hereditary amino acid metabolism disorders urea cycle disorders |
| title | Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician |
| title_full | Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician |
| title_fullStr | Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician |
| title_full_unstemmed | Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician |
| title_short | Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician |
| title_sort | hereditary amino acid metabolism disorders and urea cycle disorders to practicing physician |
| topic | neonatal screening aminoacidopathy hereditary amino acid metabolism disorders urea cycle disorders |
| url | https://vsp.spr-journal.ru/jour/article/view/3358 |
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