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Hearing loss in inherited metabolic disorders: A systematic review

      Highlights

      • Inherited metabolic disorders (IMDs) are often associated with hearing loss (HL).
      • We systematically reviewed associations between IMDs and HL.
      • Incidence, etiology, pathophysiology, and treatment were discussed.
      • Better understanding of these associations may improve diagnosis and treatment.

      Abstract

      Inherited metabolic disorders (IMDs) have been observed in individuals with hearing loss (HL), but IMDs are rarely the cause of syndromic HL. With early diagnosis, management of HL is more effective and cortical reorganization is possible with hearing aids or cochlear implants. This review describes relationships between IMDs and HL in terms of incidence, etiology of HL, pathophysiology, and treatment. Forty types of IMDs are described in the literature, mainly in case reports. Management and prognosis are noted where existing. We also describe IMDs with HL given age of occurrence of HL. Reviewing the main IMDs that are associated with HL may provide an additional clinical tool with which to better diagnose syndromic HL.

      Abbreviations:

      AR (autosomal recessive), CDG (congenital disorder of glycosylation), CI (cochlear implant), DBP (D-bifunctional protein deficiency), ERT (enzyme replacement therapy), GAG (glycosaminoglycan), HL (hearing loss), IEM (inborn error of metabolism), IRD (infantile Refsum disease), MGA (methylglutaconic aciduria), MPS (mucopolysaccharidosis), MRI (magnetic resonance imaging), NALD (neonatal adrenoleukodystrophy), P-NALD (pseudoneonatal adrenoleukodystrophy), ROS (reactive oxygen species), SNHL (sensorineural hearing loss), SOS (spondylo ocular syndrome), X-ALD (X-linked adrenoleukodystrophy), ZS (Zellweger syndrome), ZSD (Zellweger spectrum disorder)

      Keywords

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