Mio Matsumoto, Momoko Oyake, Tomoyo Itonaga, Miwako Maeda, Soichi Suenobu, Daichi Satob, Yoji Sasahara, Hiroyuki Mishima, Koh-Ichiro Yoshiura, Kenji Ihara
ADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which are often overlooked, particularly in patients with milder symptoms...
April 11, 2024: European Journal of Medical Genetics