Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

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.

DOI: https://doi.org/10.3345/cep.2024.01102

MOST CITED ACCEPTED ARTICLES

Cited By 19	Neurodevelopmental outcomes of preterm infants
Cited By 18	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 15	Association of gut microbiota with obesity in children and adolescents
Cited By 14	Gut microbiota affects brain development and behavior
Cited By 14	Nonalcoholic fatty liver disease and insulin resistance in children

+more

Debate around and impact of digital screen time and media parenting on children’s development

Hematopoietic stem cell transplantation in pediatric patients with type VI mucopolysaccharidosis

Efficacy and safety of carbon dioxide versus room-air insufflation in pediatric colonoscopy: a randomized controlled trial

Aplasia cutis congenita with unique vascular malformation and cranial hypoplasia: a case in a preterm infant

Abdominal pain in a young girl: a twist in the tale

+more

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES

FOR CONTRIBUTORS

ABOUT

Editorial Office: Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306 Fax: +82-2-3473-7307 E-mail: office@e-cep.org

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)