Family case of aromatic L-amino acid decarboxylase deficiency
Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscular hypotonia, motor development delay, oculogyric cri...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2022-12-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/511 |
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| author | O. B. Kondakova K. A. Kazakova A. A. Lyalina N. V. Lapshina A. A. Pushkov N. N. Mazanova Yu. I. Davydova D. I. Grebenkin I. V. Kanivets K. V. Savostyanov |
| author_facet | O. B. Kondakova K. A. Kazakova A. A. Lyalina N. V. Lapshina A. A. Pushkov N. N. Mazanova Yu. I. Davydova D. I. Grebenkin I. V. Kanivets K. V. Savostyanov |
| author_sort | O. B. Kondakova |
| collection | DOAJ |
| description | Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscular hypotonia, motor development delay, oculogyric crises and impairment of the autonomic nervous system.Laboratory diagnostic of AADC deficiency in Russian Federation includes determination of the concentration of 3‑O‑methyldophamine in dried blood spots by tandem mass spectrometry and molecular analysis of the DDC gene by Sanger sequencing or next generation sequencing.Therapy of AADC deficiency includes combination of drugs which increase the formation of dopamine, inhibit its reuptake and increase the residual activity of the enzyme. The first‑line drugs are selective dopamine agonists, monoamine oxidase inhibitors of type B and vitamin B6 supplements.We present the case of management and treatment of patients with AADC deficiency. The patient’s condition was improved by using of combination therapy with pyridoxal‑5‑phosphate, pramipexole and selegiline. Significant positive dynamics was achieved on pyridoxal‑5‑phosphate therapy for the first time. |
| format | Article |
| id | doaj-art-1b2e33b95b524c4399b4bd0137c0ab06 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2022-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-1b2e33b95b524c4399b4bd0137c0ab062025-08-20T03:38:15ZrusABV-pressНервно-мышечные болезни2222-87212413-04432022-12-01124889810.17650/2222-8721-2022-12-4-88-98336Family case of aromatic L-amino acid decarboxylase deficiencyO. B. Kondakova0K. A. Kazakova1A. A. Lyalina2N. V. Lapshina3A. A. Pushkov4N. N. Mazanova5Yu. I. Davydova6D. I. Grebenkin7I. V. Kanivets8K. V. Savostyanov9National Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaNational Medical Research Center for Children’s Health, Ministry of Health of RussiaAromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscular hypotonia, motor development delay, oculogyric crises and impairment of the autonomic nervous system.Laboratory diagnostic of AADC deficiency in Russian Federation includes determination of the concentration of 3‑O‑methyldophamine in dried blood spots by tandem mass spectrometry and molecular analysis of the DDC gene by Sanger sequencing or next generation sequencing.Therapy of AADC deficiency includes combination of drugs which increase the formation of dopamine, inhibit its reuptake and increase the residual activity of the enzyme. The first‑line drugs are selective dopamine agonists, monoamine oxidase inhibitors of type B and vitamin B6 supplements.We present the case of management and treatment of patients with AADC deficiency. The patient’s condition was improved by using of combination therapy with pyridoxal‑5‑phosphate, pramipexole and selegiline. Significant positive dynamics was achieved on pyridoxal‑5‑phosphate therapy for the first time.https://nmb.abvpress.ru/jour/article/view/511deficiency of aromatic l‑amino acid decarboxylasearomatic l‑amino acid decarboxylaseoculogyric criseshypotoniadystonia3‑o‑methyldophaminepyridoxal‑5‑phosphateupstaza |
| spellingShingle | O. B. Kondakova K. A. Kazakova A. A. Lyalina N. V. Lapshina A. A. Pushkov N. N. Mazanova Yu. I. Davydova D. I. Grebenkin I. V. Kanivets K. V. Savostyanov Family case of aromatic L-amino acid decarboxylase deficiency Нервно-мышечные болезни deficiency of aromatic l‑amino acid decarboxylase aromatic l‑amino acid decarboxylase oculogyric crises hypotonia dystonia 3‑o‑methyldophamine pyridoxal‑5‑phosphate upstaza |
| title | Family case of aromatic L-amino acid decarboxylase deficiency |
| title_full | Family case of aromatic L-amino acid decarboxylase deficiency |
| title_fullStr | Family case of aromatic L-amino acid decarboxylase deficiency |
| title_full_unstemmed | Family case of aromatic L-amino acid decarboxylase deficiency |
| title_short | Family case of aromatic L-amino acid decarboxylase deficiency |
| title_sort | family case of aromatic l amino acid decarboxylase deficiency |
| topic | deficiency of aromatic l‑amino acid decarboxylase aromatic l‑amino acid decarboxylase oculogyric crises hypotonia dystonia 3‑o‑methyldophamine pyridoxal‑5‑phosphate upstaza |
| url | https://nmb.abvpress.ru/jour/article/view/511 |
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