Biotinidase Deficiency

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Biotinidase deficiency is a recessive hereditary disorder in which the person lacks the enzyme necessary to release biotin from the protein it is chemically bound to, leading to lack of enough available biotin for the body to use. It is designated as profound or partial, depending on the degree of biotin deficiency.5, 10

Diagram_for_biotinidase_deficiency

The condition typically presents itself any time from infancy to age 10. Some states include testing for biotinidase deficiency as part of their newborn screening procedures. The condition is diagnosed as profound biotinidase deficiency if the biotinidase enzyme activity in the blood is fewer than 10% of the normal activity, or partial if between 10-30% of normal enzyme levels.10

Most symptoms are readily alleviated with 5-10 mg of oral biotin, which is rapidly and completely absorbed by the body. However, if left untreated biotinidase-deficient children will commonly display some or all of the following symptoms:1, 10

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Although the symptoms of biotinidase deficiency are similar to biotin deficiency caused by other factors (e.g., malnutrition), they are not identical. Some of the neurological damage associated with biotinidase deficiency (e.g., irreversible hearing loss, vision problems) is not found in biotin deficiency from non-hereditary causes nor with deficiency of holocarboxylase synthetase enzyme.7

Disclaimer: This website is not intended to replace professional consultation, diagnosis, or treatment by a licensed physician. If you require any medical related advice, contact your physician promptly. Information at Biotin.com is exclusively of a general reference nature. Do not disregard medical advice or delay treatment as a result of accessing information at this site.
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