Hi my baby is 7 weeks old. Both PKU came back that she has the biotinidase deficiency. Doctor sent her for blood work to test for that specific deficiency. Called today and was told normal range is between 4 and 12. They told me that her results was a 2. What does this mean?
Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected child Chat Doctor.  Lifelong treatment can prevent these complications from occurring or improve them if they have already developed. Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected child