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In this case report, a 6-year-old male with biotinidase deficiency experienced marked improvement in dermatological symptoms, including alopecia and periorificial lesions, following biotin treatment.

Hair changes could indicate neurological diseases and help monitor treatment.

This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.

This study found that while biotin treatment improves clinical and biochemical symptoms in patients with biotinidase deficiency, some experience lasting neurological damage, and it is uncertain if early treatment can prevent this.

This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.