PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD
Propionic aciduria is a rare hereditary metabolic disease with autosomal-recessive inheritance mode associated with organic acid metabolic disorder. Early diagnostics is difficult as clinical symptoms caused by metabolic defects are often observed at hypoxicischemic central nervous system lesion, br...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2014-01-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/139 |
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| author | L. D. Fominykh G. V. Solovyeva M. L. Vyaznikova N. G. Muratova T. E. Serebrenikova E. A. Kostyuchek |
| author_facet | L. D. Fominykh G. V. Solovyeva M. L. Vyaznikova N. G. Muratova T. E. Serebrenikova E. A. Kostyuchek |
| author_sort | L. D. Fominykh |
| collection | DOAJ |
| description | Propionic aciduria is a rare hereditary metabolic disease with autosomal-recessive inheritance mode associated with organic acid metabolic disorder. Early diagnostics is difficult as clinical symptoms caused by metabolic defects are often observed at hypoxicischemic central nervous system lesion, brain malformations and intrauterine infections. Laboratory examination reveals increased concentration of organic acids in blood and urine. The article presents observation of propionic aciduria in a 5-month-old child. |
| format | Article |
| id | doaj-art-171ff27b54e844ee90d030ef7d7faa10 |
| institution | Kabale University |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2014-01-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-171ff27b54e844ee90d030ef7d7faa102025-08-20T03:36:53ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892014-01-01111525410.15690/pf.v11i1.895139PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILDL. D. Fominykh0G. V. Solovyeva1M. L. Vyaznikova2N. G. Muratova3T. E. Serebrenikova4E. A. Kostyuchek5Institute of Postgraduate Education of the Kirov State Medical AcademyInstitute of Postgraduate Education of the Kirov State Medical Academy, Russian FederationInstitute of Postgraduate Education of the Kirov State Medical Academy, Russian FederationInstitute of Postgraduate Education of the Kirov State Medical Academy, Russian FederationChildren’s Regional Clinical Hospital, Kirov, Russian FederationChildren’s Regional Clinical Hospital, Kirov, Russian FederationPropionic aciduria is a rare hereditary metabolic disease with autosomal-recessive inheritance mode associated with organic acid metabolic disorder. Early diagnostics is difficult as clinical symptoms caused by metabolic defects are often observed at hypoxicischemic central nervous system lesion, brain malformations and intrauterine infections. Laboratory examination reveals increased concentration of organic acids in blood and urine. The article presents observation of propionic aciduria in a 5-month-old child.https://www.pedpharma.ru/jour/article/view/139hereditary metabolic diseasespropionic aciduriachildrendiagnostics |
| spellingShingle | L. D. Fominykh G. V. Solovyeva M. L. Vyaznikova N. G. Muratova T. E. Serebrenikova E. A. Kostyuchek PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD Педиатрическая фармакология hereditary metabolic diseases propionic aciduria children diagnostics |
| title | PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD |
| title_full | PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD |
| title_fullStr | PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD |
| title_full_unstemmed | PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD |
| title_short | PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD |
| title_sort | propionic aciduria in a 5 month old child |
| topic | hereditary metabolic diseases propionic aciduria children diagnostics |
| url | https://www.pedpharma.ru/jour/article/view/139 |
| work_keys_str_mv | AT ldfominykh propionicaciduriaina5montholdchild AT gvsolovyeva propionicaciduriaina5montholdchild AT mlvyaznikova propionicaciduriaina5montholdchild AT ngmuratova propionicaciduriaina5montholdchild AT teserebrenikova propionicaciduriaina5montholdchild AT eakostyuchek propionicaciduriaina5montholdchild |