Primární poruchy metabolismu monoaminových neurotransmiterů v klinické praxi
| Title in English | Primary disorders of monoamine neurotransmitter metabolism in clinical practice |
|---|---|
| Authors | |
| Year of publication | 2022 |
| Type | Article in Periodical |
| Magazine / Source | Pediatrie pro Praxi |
| Citation | |
| Web | https://www.pediatriepropraxi.cz/artkey/ped-202206-0005_primarni_poruchy_metabolismu_monoaminovych_neurotransmiteru_v_klinicke_praxi.php |
| Doi | http://dx.doi.org/10.36290/ped.2022.071 |
| Keywords | monoamine neurotransmitters, tetrahydrobiopterin, psychomotor retardation, dystonia, AADC-D, gene therapy |
| Description | Primary disorders of monoamine neurotransmitters are a group of rare inherited neurometabolic diseases. Dominant signs of these disorders are the appearance of first symptoms in early childhood, polymorph symptomatology with variable prognosis, difficult definitive diagnosis, and in most cases, absence of causal therapy. Many patients worldwide stay undiagnosed since there is a lack of sufficient knowledge among health professionals. The authors tend to familiarize health professionals with the most important representatives of these disorders. |