- Original Article
- Genetics and Metabolism
- Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis
-
Meng-Ju Melody Tsai, Jung-Chi Chang, Heng-Yu Lu, Susan Shur-Fen Gau, Yin-Hsiu Chien, Wuh-Liang Hwu, Yen-Hsuan Ni, Huey-Ling Chen, Ni-Chung Lee
-
Clin Exp Pediatr. 2025;68(3):257-265. Published online November 28, 2024
-
|
Question: Do transient metabolic disturbances in early childhood due to citrin deficiency have lasting effects on neurocognitive function?
Finding: Children with citrin deficiency have a higher prevalence of ADHD compared to the general population, with elevated ammonia levels in infancy associated with increased hyperactivity-impulsivity risk.
Meaning: Metabolic disturbances in early childhood due to citrin deficiency may contribute to long-term neurocognitive impacts, particularly ADHD, while IQ and life outcomes generally remain normal. |
-
-
|