Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press60410.17650/2222-8721-2024-14-2-62-67LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫAromatic L-amino acid decarboxylase deficiency – disease under the masks of cerebral palsy and epilepsyДефицит декарбоксилазы ароматических L-аминокислот – заболевание под «масками» церебрального паралича и эпилепсииhttps://orcid.org/0000-0002-7231-0249ChebanenkoN. V.ЧебаненкоН. В.
Russian Federation

2/1 Barrikadnaya St., Moscow 125993

Наталья Владимировна Чебаненко

125993 Москва, ул. Баррикадная, 2/1, стр. 1

nataqwe@yandex.ruRussian Medical Academy of Postgraduate Education, Ministry of Health of RussiaФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России240520241422405202424052024Copyright ©; 2024, Chebanenko N.V.Copyright ©; 2024, Чебаненко Н.В.2024Chebanenko N.V.Чебаненко Н.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/604

Aromatic L‑amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. The disease manifests in early childhood with nonspecific symptoms such as hypotension, movement disorders (oculogyric crisis, dystonia, hypokinesia), developmental delay and vegetative symptoms.

Currently, diagnostic criteria for this disease have been determined, as well as possible options for correcting the patient’s condition. However, often, the no specificity of AADC deficiency symptoms leads to a significant delay in diagnosis or even misdiagnosis in patients with AADC deficiency. Identification of patients with AADC deficiency will improve their quality of life due to possible syndromic treatment, facilitate their care and prolong life. In the absence of a correct diagnosis, children with AADC deficiency may be observed for a long time with diagnoses such as cerebral palsy or epilepsy and receive therapy that has no therapeutic effect or may lead to a worsening of the symptoms of the underlying disease.

Дефицит декарбоксилазы ароматических L‑аминокислот (aromatic L‑amino acid decarboxylase, AADC) является редким аутосомно‑рецессивным нейрометаболическим заболеванием, приводящим к тяжелому комбинированному дефициту серотонина, дофамина, норадреналина и адреналина. Оно манифестирует уже в раннем детском возрасте такими неспецифическими клиническими симптомами, как гипотония, двигательные расстройства (окулогирный криз, дистония, гипокинезия), задержка развития и вегетативные симптомы.

В настоящее время определены критерии диагностики дефицита AADC, а также возможные опции коррекции состояния пациентов. Однако зачастую неспецифичность симптомов приводит к существенной задержке в установлении диагноза или вовсе неверному диагностированию заболевания. Выявление пациентов с дефицитом AADC позволит улучшить их качество жизни благодаря возможному посиндромальному лечению, облегчить уход за ними и продлить жизнь. В отсутствие правильного диагноза дети с дефицитом AADC длительное время могут наблюдаться с диагнозом детского церебрального паралича или эпилепсии и получать терапию, которая не имеет лечебного эффекта либо может приводить к ухудшению симптомов основного заболевания.

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Available at: https://med-gen.ru/spetcialistam/nauchnye-diagnosticheskie-programmy/programmadiagnostiki-nedostatochnosti-dekarboksilazy-l-aromaticheskikhaminokislot-aadcd/. (In Russ.)Программа диагностики недостаточности декарбоксилазы L-ароматических аминокислот (AADCd). Доступно по: https://med-gen.ru/spetcialistam/nauchnye-diagnosticheskieprogrammy/programma-diagnostiki-nedostatochnostidekarboksilazy-l-aromaticheskikh-aminokislot-aadcd/.