Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press51110.17650/2222-8721-2022-12-4-88-98CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРFamily case of aromatic L-amino acid decarboxylase deficiencyСемейный случай недостаточности декарбоксилазы L-ароматических аминокислотhttps://orcid.org/0000-0002-6316-9992KondakovaO. B.КондаковаО. Б.
Russian Federation

Olga Borisovna Kondakova 

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

Ольга Борисовна Кондакова  

119296 Москва, Ломоносовский проспект, 2, стр. 1

kondakova.ob@nczd.ruhttps://orcid.org/0000-0003-4657-7879KazakovaK. A.КазаковаК. A.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

https://orcid.org/0000-0001-5657-7851LyalinaA. A.ЛялинаА. А.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

https://orcid.org/0000-0002-4935-6943LapshinaN. V.ЛапшинаН. В.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

PushkovA. A.ПушковА. А.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

https://orcid.org/0000-0002-3473-2897MazanovaN. N.МазановаН. Н.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

https://orcid.org/0000-0001-5978-854XDavydovaYu. I.ДавыдоваЮ. И.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

https://orcid.org/0000-0002-0551-5869GrebenkinD. I.ГребенкинД. И.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

https://orcid.org/0000-0001-5821-9783KanivetsI. V.КанивецИ. В.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

https://orcid.org/0000-0003-4885-4171SavostyanovK. V.СавостьяновК. В.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

119296 Москва, Ломоносовский проспект, 2, стр. 1

National Medical Research Center for Children’s Health, Ministry of Health of RussiaФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России1312202212488981312202213122022Copyright ©; 2022, Kondakova O.B., Kazakova K.A., Lyalina A.A., Lapshina N.V., Pushkov A.A., Mazanova N.N., Davydova Y.I., Grebenkin D.I., Kanivets I.V., Savostyanov K.V.Copyright ©; 2022, Кондакова О.Б., Казакова К.A., Лялина А.А., Лапшина Н.В., Пушков А.А., Мазанова Н.Н., Давыдова Ю.И., Гребенкин Д.И., Канивец И.В., Савостьянов К.В.2022Kondakova O.B., Kazakova K.A., Lyalina A.A., Lapshina N.V., Pushkov A.A., Mazanova N.N., Davydova Y.I., Grebenkin D.I., Kanivets I.V., Savostyanov K.V.Кондакова О.Б., Казакова К.A., Лялина А.А., Лапшина Н.В., Пушков А.А., Мазанова Н.Н., Давыдова Ю.И., Гребенкин Д.И., Канивец И.В., Савостьянов К.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/511

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.

Дефицит декарбоксилазы ароматических L‑аминокислот (aromatic L‑amino acid decarboxylase, AADC) – редкое аутосомно‑рецессивное нейрометаболическое заболевание, обусловленное генерализованным комбинированным дефицитом серотонина, дофамина, норадреналина и адреналина. Заболевание характеризуется мышечной гипотонией, задержкой моторного развития, окулогирными кризами, расстройствами вегетативной нервной системы. Лабораторная диагностика дефицита AADC в России основана на определении концентрации 3‑О‑метилдофамина в сухих пятнах крови методом тандемной масс‑спектрометрии, а также поиске патогенных вариантов в гене DDC методом секвенирования по Сэнгеру либо высокопроизводительного секвенирования.Терапия дефицита AADC включает комбинацию препаратов, улучшающих образование дофамина, тормозящих его обратный захват и увеличивающих остаточную активность фермента. Препаратами 1‑й линии являются селективные агонисты дофамина, ингибиторы моноаминоксидазы типа В и препараты витамина В6.Представлен собственный клинический опыт наблюдения и лечения пациентов с недостаточностью AADC. На фоне комбинированной терапии пиридоксаль‑5‑фосфатом, прамипексолом и селегилином наблюдалось улучшение состояния пациента. Впервые была достигнута выраженная положительная динамика на фоне терапии пиридоксаль‑5‑фосфатом.

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