Department of Pediatrics, Women and Infants Hospital of Rhode Island, The Warren Alpert Medical School of Brown University, Providence, RI 02905, USA.
J Perinatol. 2010 Apr;30(4):295-7. doi: 10.1038/jp.2009.136.
Classic galactosemia results from mutations in the galactose-1-phosphate uridyl transferase gene and causes infants to present with jaundice after initiation of lactose containing formulas. Jaundice associated with galactosemia is often thought to have a prominent direct fraction. We report an infant with galactosemia who presented with severe jaundice from indirect hyperbilirubinemia and met criteria for an exchange transfusion within 48 h after milk ingestion.
经典型半乳糖血症是由于半乳糖-1-磷酸尿苷转移酶基因突变引起的，导致婴儿在开始摄入含乳糖的配方后出现黄疸。与半乳糖血症相关的黄疸通常被认为具有明显的直接胆红素成分。我们报告了一例半乳糖血症婴儿，在摄入牛奶后 48 小时内因间接胆红素升高出现严重黄疸，并符合换血标准。
