Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis.

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 disorders (ADHD) and intelligence quotient (IQ). We compared the peak laboratory values during infancy bet

SUBMITTER: Tsai MM 

PROVIDER: S-EPMC11884951 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature