| Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis |
Meng-Ju Melody Tsai1,2 
, Jung-Chi Chang3,4
, Heng-Yu Lu5, Susan Shur-Fen Gau3,4
, Yin-Hsiu Chien6
, Wuh-Liang Hwu6,7
, Yen-Hsuan Ni1,8
, Huey-Ling Chen8,9
, Ni-Chung Lee6
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1Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan
2Department of Pediatrics, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan
3Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
4Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan
5Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan
6Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
7Center for Precision Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan
8Hepatitis Research Center, National Taiwan University Hospital, Taipei, Taiwan
9Department of Medical Education and Bioethics, National Taiwan University College of Medicine, Taipei, Taiwan |
Correspondence:
Ni-Chung Lee, Tel: 886-2-23123456, Email: ncleentu@ntu.edu.tw
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Received: 28 July 2024 • Revised: 22 September 2024 • Accepted: 18 October 2024 |
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| Abstract |
Background
Citrin deficiency is a rare metabolic disorder prevalent in East and Southeast Asia that affects liver or neurological function throughout various life stages. While early diagnosis and dietary management can improve prognosis for infant onset disease, data on long-term neurocognitive outcomes is scarce.
Purpose
This study aimed to clarify whether transient metabolic disturbances during early childhood have a lasting effect on the neurocognitive function of individuals with citrin deficiency.
Methods
Thirty patients diagnosed with citrin deficiency prior to 1 year of age underwent neuropsychological assessments including attention-deficit/hyperactivity disorder (ADHD) and intelligence quotient (IQ). We compared the peak laboratory values during infancy between children who were versus were not later diagnosed with ADHD.
Results
Neurocognitive assessments of 30 individuals with citrin deficiency aged 3–25 years revealed that full-scale IQ scores were normally distributed. Of this cohort, 47% (14 of 30) were diagnosed with ADHD: six, six, and two with the combined, inattentive, and hyperactive-impulsive types, respectively. This prevalence was higher than that in the general population (1.7–16%). Moreover, a one-unit increase in ammonia levels before 1 year of age was associated with a 1.023-fold increase in the likelihood of future hyperactivity-impulsivity symptoms (p = 0.038; 95% confidence interval, 1.001–1.046). Despite these findings, this long-term follow-up of individuals with citrin deficiency indicated that it had minimal impact on neurocognitive function, allowing for a generally normal life.
Conclusion
Patients with a history of cholestasis caused by citrin deficiency during infancy have a greater incidence of ADHD than the general population, suggesting that metabolic disturbances during early childhood in individuals with citrin deficiency may have a long-term negative impact on their neurocognitive function.
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| Key Words:
Neuropsychological evaluation, Attention deficit hyperactivity disorder, Citrullinemia type II, Citrin deficiency |
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