Article
Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Apr 2020
Demir Köse Melis, Colak Ruya, Yangin Ergon Ezgi, Kulali Ferit, Yildiz Meral, Alkan Senem, Atilgan Taner, Aslan Fatma, Brown Ruth, Brown Garry, Serdaroğlu Erkin, Çalkavur Sebnem
Abstract excerpt
Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD)...
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