Biotinidase deficiencyOverviewBiotinidase deficiency is an autosomal recessive metabolic disorder in which the body is not able to process the nutrient biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates and proteins. Biotin Deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure. Symptoms HideSymptoms of a biotinidase deficiency can appear several days after birth. These include: seizures, hypotonia, ataxia, hearing loss, optic atrophy, skin rash and alopecia. If left untreated, the disorder can eventually lead to coma and death. It is recommended that raw eggs should be avoided in those affected by biotinidase deficiency, as eggs contain high levels of avidin. This binds to biotin making it unavailable for use elsewhere in the body. Log in to comment. Diagnosis HideBiotinidase deficiency can be found by genetic testing. This is often done at birth in several states throughout the United States. Results are found through testing a small amount of blood gathered through a heel prick of the infant. Not all states require that this test be done so it is often skipped in those where it is not required. It can also be found by sequencing the BTD gene. Log in to comment. Treatment HideTreatment is possible but unless continued daily, problems may arise. Currently, this is done through the taking of 5-10 mg of oral biotin a day. If symptoms have begun to show, standard treatments can take care of them, such as corrective lenses for mild cases of optic atrophy and hearing aids for poor hearing. Log in to comment. |
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