Developmental window of sensorineural deafness in biotinidase-deficient mice
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.
Journal of inherited metabolic disease
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