10 Serious Warning Signs Of A Biotinidase Deficiency

7. Alopecia (Hair Loss)

Beyond just thin or brittle hair, a severe symptom of Biotinidase Deficiency can be significant hair loss, or alopecia. This typically manifests as generalized thinning across the scalp, eyebrows, and eyelashes, sometimes progressing to complete baldness. The ectodermal impact of the deficiency directly impairs hair follicle function, disrupting the hair growth cycle. This distinctive hair loss, particularly when combined with other neurological or skin symptoms, serves as a strong visual cue for a potential biotinidase deficiency, even in older children who may have missed newborn screening.

8. Developmental Delay & Intellectual Disability

The broad impact of Biotinidase Deficiency on the nervous system can lead to alarming developmental delays in infants and, if untreated, progress to intellectual disability. This is not simply a delay in reaching milestones, but a profound impact on cognitive development. Children may struggle with language acquisition, problem-solving skills, and fine motor coordination. Recognizing these delays in conjunction with other symptoms, like seizures or hypotonia, is paramount. Early and consistent biotin supplementation can often prevent or significantly mitigate these long-term neurological consequences, highlighting the urgency of diagnosis.