Table 7.

Specific Medical Therapy for Select Genetic Disorders

Disorder NameGene(s)TherapyComments
Biotinidase deficiency BTD Administration of biotinGoal is to treat biotin deficiency & prevent progression of hearing loss.
Hypoparathyroidism, sensorineural deafness, renal dysplasia (HDR syndrome; Barakat syndrome) GATA3 Oral calcium & calcitriol, parathyroid hormone injectionGoal is to treat underlying hypoparathyroidism & subsequent hypocalcemia.
NLRP3-related disorders 1 NLRP3 Injection w/anakinra, rilonacept, or canakinumabGoal is to reduce or reverse autoimmune-mediated hearing loss.
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) SLC52A2
SLC52A3 		High-dose supplementation of riboflavinGoal is to treat riboflavin deficiency & prevent progression of hearing loss.
1.

Cryopyrin-associated periodic syndrome (CAPS), familial cold autoinflammatory syndrome, chronic infantile neurologic cutaneous articular syndrome (CINCA), neonatal-onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome

From: Genetic Hearing Loss Overview

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