Hisato Shima, Takahiro Tsukimura, Tomoko Shiga, Tadayasu Togawa, Hitoshi Sakuraba, Toshio Doi, Yuka Ikeda, Takuya Okamoto, Yukari Yoshikawa, Takehiko Kimura, Takashi Iwase, Tomoko Inoue, Manabu Tashiro, Kazuyoshi Okada, Jun Minakuchi
Fabry disease is an X-linked hereditary disorder caused by deficient α-galactosidase A (GLA) activity. Patients with Fabry disease are often treated with enzyme replacement therapy (ERT). However, ERT often induces the formation of neutralizing antidrug antibodies (ADAs), which may impair the therapeutic efficacy. Here, we report the case of a 32-year-old man with Fabry disease and resultant neutralizing ADAs who was treated by switching from agalsidase-α to agalsidase-β. We monitored biomarkers, such as plasma globotriaosylsphingosine (lyso-Gb3), urinary globotriaosylceramide (Gb3), urinary mulberry bodies, renal and cardiac parameters, and disease severity during the treatment period...
December 22, 2023: CEN Case Reports