Long-term neurological outcome of patients with maple syrup urine disease in relation to serum biomarkers

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Background Maple syrup urine disease (MSUD) is a rare inborn error of branched-chain amino acid catabolism that causes neurotoxic accumulation and variable neurological outcomes. Management is complicated by the absence of reliable neural biomarkers. Brain-derived neurotrophic factor (BDNF) and intercellular adhesion molecule-1 (ICAM-1) are evolving biomarkers. They may reflect neuroinflammation and neurodevelopment, potentially improving patient monitoring and care. Aim To assess long-term neurological outcomes in MSUD patients in relation to serum BDNF and ICAM-1 levels. Methods A case–control study was conducted on 42 MSUD patients and 27 age- and sex-matched controls recruited from the Medical Genetics Department, Ain Shams University. Clinical, dietary, and neurological data were collected. Amino acids were quantified using LC-MS/MS, and plasma BDNF and ICAM-1 were measured by ELISA. Neurocognitive assessments were performed for all 42 patients, behavioral assessments for 38, and brain MRI for 30. Results The MSUD cohort comprised equal numbers of males and females, age 3–23 years, median (IQR) 8 (6–11). Parental consanguinity was present in 90.5% of patients. Most patients had the classic phenotype (88%, 37/42). Compared with controls, MSUD patients showed elevated serum BDNF and ICAM-1. These biomarkers were selectively associated with medullary MRI abnormalities and internalizing psychiatric symptoms but not correlated to metabolic control or neuromuscular findings. Conclusion Elevated BDNF and ICAM-1 in MSUD patients showed selective associations with brainstem MRI changes and internalizing symptoms. BDNF may indicate early neuroadaptive responses, while ICAM-1 reflects chronic neuroinflammation. Both shows promise as adjunctive biomarkers for monitoring and prognostic assessment in MSUD.

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