Article

Liver-directed AAV gene therapy metabolically corrects AKU in <i>Hgd</i> deficient mice

2026-06-02

Abstract excerpt

<h4>Background</h4> Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisate 1,2-dioxygenase (HGD), resulting in systemic accumulation of homogentisic acid (HGA), ochronosis, and progressive multisystem disease. Although nitisinone (NTBC) lowers HGA levels, it does not correct the underlying genetic defect and induces hypertyrosinemia, highlighting the need for cur...

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Literature Corpus work: 42cd562f-f13e-5dd4-ae79-b11194beb1de
DOI: 10.64898/2026.06.01.729174

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