Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation

https://www.researchgate.net/publication/6425523_Hearing_Loss_in_Biotinidase_Deficiency_Genotype-Phenotype_Correlation
Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have hearing loss develop than those with missense mutations, even if not treated for a period of time. Hearing loss appears to be preventable in children with null mutations if treatment is initiated soon after birth.