hrp0095p1-137 | Multisystem Endocrine Disorders | ESPE2022

First description of a child with a biallellic loss-of-function variant in the sulfate transporter SLC13A1

JJ Finken Martijn , Bokenkamp Arend , EC Smith Desiree , MC Wamelink Mirjam , EW Jansen Erwin , A Struijs Eduard , Waisfisz Quinten , Verkleij Marieke , F Hartmann Michaela , Wang Rong , A Wudy Stefan , Paganini Chiara , Rossi Antonio , M van de Kamp Jiddeke

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...