ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) deficiency is a rare but devastating genetic disorder that affects bone and vascular health. Around half of affected children die within the first six months of life, and surviving patients often suffer from skeletal abnormalities, growth impairment, and hearing loss—seen in up to 75% of cases. American researchers have now demonstrated that hearing loss caused by ENPP1 deficiency can be prevented or reversed in mice using enzyme replacement therapy (ERT).
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