Eita Uenishi, Yusuke Seino, Akira Nakashima, Katsuhiko Kato, Mitsuhiro Kato, Hiroshi Nagasaki, Kota Ishikawa, Takako Izumoto, Masaaki Yamamoto, Yutaka Takahashi, Yoshihisa Sugimura, Yutaka Oiso, Shin Tsunekawa
Orthostatic hypotension (OH) is a common condition. Many potential etiologies of OH have been identified, but in clinical practice the underlying cause of OH is often unknown. In the present study, we identified a novel and extraordinary etiology of OH. We describe a first case of acquired severe OH with syncope, and the female patient had extremely low levels of catecholamines and serotonin in plasma, urine and cerebrospinal fluid (CSF). Her clinical and biochemical evidence showed a deficiency of the enzyme aromatic l-amino acid decarboxylase (AADC), which converts l-DOPA to dopamine, and 5-hydroxytryptophan to serotonin, respectively...
April 16, 2024: Biochemical and Biophysical Research Communications