A clinical case of severe aromatic L-amino acid decarboxylase deficiency
We present a case of a rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after a pathogenic mutation indicative of AADCD was found. In most cases, AADCD causes marked impairment of motor and psycho- speech development and is accompanied by severe episo...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2024-01-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/579 |
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| author | O. A. Shidlovskaya S. B. Artemyeva E. D. Belousova Z. K. Gorchkhanova |
| author_facet | O. A. Shidlovskaya S. B. Artemyeva E. D. Belousova Z. K. Gorchkhanova |
| author_sort | O. A. Shidlovskaya |
| collection | DOAJ |
| description | We present a case of a rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after a pathogenic mutation indicative of AADCD was found. In most cases, AADCD causes marked impairment of motor and psycho- speech development and is accompanied by severe episodes of dystonia – oculogyric crises. The careful attention of neurologists, pediatricians, geneticists, gastroenterologists, and pulmonologists in cases of a complex set of diverse symptoms determines the success of early diagnosis and the earliest possible prescription of modern gene replacement therapy for AADCD. |
| format | Article |
| id | doaj-art-45e1a539c6f64b6ca82d0610c082d7bf |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2024-01-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-45e1a539c6f64b6ca82d0610c082d7bf2025-08-20T04:00:20ZrusABV-pressНервно-мышечные болезни2222-87212413-04432024-01-0113410.17650/2222-8721-2023-13-4-113-116370A clinical case of severe aromatic L-amino acid decarboxylase deficiencyO. A. Shidlovskaya0S. B. Artemyeva1E. D. Belousova2Z. K. Gorchkhanova3Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University UniversityYu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University UniversityYu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University UniversityYu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University UniversityWe present a case of a rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after a pathogenic mutation indicative of AADCD was found. In most cases, AADCD causes marked impairment of motor and psycho- speech development and is accompanied by severe episodes of dystonia – oculogyric crises. The careful attention of neurologists, pediatricians, geneticists, gastroenterologists, and pulmonologists in cases of a complex set of diverse symptoms determines the success of early diagnosis and the earliest possible prescription of modern gene replacement therapy for AADCD.https://nmb.abvpress.ru/jour/article/view/579aromatic l-amino acid decarboxylase deficiencyoculogyric crisesddc genehypotensiondystonia |
| spellingShingle | O. A. Shidlovskaya S. B. Artemyeva E. D. Belousova Z. K. Gorchkhanova A clinical case of severe aromatic L-amino acid decarboxylase deficiency Нервно-мышечные болезни aromatic l-amino acid decarboxylase deficiency oculogyric crises ddc gene hypotension dystonia |
| title | A clinical case of severe aromatic L-amino acid decarboxylase deficiency |
| title_full | A clinical case of severe aromatic L-amino acid decarboxylase deficiency |
| title_fullStr | A clinical case of severe aromatic L-amino acid decarboxylase deficiency |
| title_full_unstemmed | A clinical case of severe aromatic L-amino acid decarboxylase deficiency |
| title_short | A clinical case of severe aromatic L-amino acid decarboxylase deficiency |
| title_sort | clinical case of severe aromatic l amino acid decarboxylase deficiency |
| topic | aromatic l-amino acid decarboxylase deficiency oculogyric crises ddc gene hypotension dystonia |
| url | https://nmb.abvpress.ru/jour/article/view/579 |
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