Developmental window of sensorineural deafness in biotinidase-deficient mice

Authors

Kathleen J. Maheras
Kirit Pindolia, Wayne State University, Henry Ford HealthFollow
Barry Wolf, Henry Ford HealthFollow
Alexander Gow

Recommended Citation

Maheras KJ, Pindolia K, Wolf B, Gow A. Developmental window of sensorineural deafness in biotinidase-deficient mice. J Inherit Metab Dis. 2017 Sep;40(5):733-744.

Document Type

Article

Publication Date

9-1-2017

Publication Title

Journal of inherited metabolic disease

Abstract

Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin. If untreated, the disorder can result in a range of neurological and cutaneous symptoms, including sensorineural deficits and deafness. To understand early mechanistic abnormalities that may precede more generalized and nonspecific effects of metabolic deficits such as weight loss and acidosis, we have analyzed auditory brainstem responses (ABRs) in biotinidase-deficient knockout (Btd

Medical Subject Headings

Animals; Biotin; Biotinidase; Biotinidase Deficiency; Deafness; Diet; Evoked Potentials, Auditory, Brain Stem; Hearing Loss, Sensorineural; Mice; Mice, Inbred C57BL; Mice, Knockout

PubMed ID

28516283

Volume

40

Issue

5

First Page

733

Last Page

744