Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations

• Main Authors: Bomi Lim (Author), Anna Cho (Author), Jaehyun Kim (Author), Sang Mee Hwang (Author), Soo Yeon Kim (Author), Jong-Hee Chae (Author), Hyoung Soo Choi (Author)
• Format: Book
• Published: The Korean Society of Pediatric Hematology-Oncology, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehyd...