Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population

    M. Mardhiah, Nor Azimah Abdul Azize, Yusnita Yakob, O. Affandi, Lock Hock Ngu, M.R. Rowani, Anasufiza Habib
    TLDR Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
    The study on biotinidase deficiency in the Malaysian population analyzed data from 20 patients and identified 9 with the condition, revealing various mutations in the BTD gene. Clinical symptoms included seizures, hair loss, and skin infections. Early diagnosis and biotin treatment improved symptoms, though some neurological deficits were irreversible. The research emphasized the importance of newborn screening and genetic counseling for effective management of biotinidase deficiency.
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