PPM –Evaluation and Ongoing Care of Biotinidase Deficiency-Description and References

Description and References

Pdf Summary

Biotinidase Deficiency is a genetic condition caused by mutations in the BTD gene. It can range from partial deficiency to profound deficiency, with untreated individuals experiencing seizures, alopecia, skin rash, hearing loss, and optic atrophy. Treatment with biotin can resolve some symptoms, but vision and hearing deficits are irreversible. Infants with partial deficiency may be asymptomatic but should still be treated. Confirmation of diagnosis involves testing enzyme activity in blood and genotyping. Treatment for biotinidase deficiency is lifelong.<br /><br />Sources:<br />1. Newborn Screening ACT sheet, biotinidase deficiency.<br />2. Sarafoglou, K. Pediatric Endocrinology and Inborn Errors of Metabolism 2nd ed.<br />3. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. GeneReviews®.

Keywords

Biotinidase Deficiency

genetic condition

BTD gene

partial deficiency

profound deficiency

seizures

alopecia

skin rash

hearing loss

optic atrophy