A Case Report and a Review of TRAPPC4-Related TRAPPopathy

    August 2026 in “ International Journal of Developmental Neuroscience ”
    Anil Kumar, Ajay Kumar, Arvinder Wander, Anjana Munshi
    Studysummary In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
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