Chicken Scratches

    September 1993 in “ Archives of Disease in Childhood ”
    K M Srivatsa
    TLDR Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
    The document discussed the importance of correctly diagnosing biotinidase deficiency, which could be mislabelled as acrodermatitis enteropathica. It highlighted that biochemical indicators might not always be present, making symptom observation crucial, especially in cases with neurological and dermatological issues. Untreated, the condition could lead to irreversible brain damage or death, but it was rapidly responsive to oral biotin. Diagnosis was straightforward through biotinidase activity determination in plasma or serum, and the condition should have been considered in cases of hair loss associated with neurological, dermatological, or respiratory illnesses.
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