Kavehmanesh Zohreh, Torkaman Mohammad, Beiraghdar Fatemeh
Baqiyatallah Research Center for Gastroenterology and Liver Diseases, Baqiyatallah University of Medical Sciences, Teheran, Iranian.
Baqiyatallah University of Medical Sciences, Teheran, Iranian.
Turk Pediatri Ars. 2020 Sep 23;55(3):316-319. doi: 10.14744/TurkPediatriArs.2019.21298. eCollection 2020.
Galactosemia is a rare autosomal recessive metabolic disorder that has three major types. The most common type is classic galactosemia. These patients have deficient galactose-1-phosphate-urydiltransferase. The enzyme deficiency often results in symptomatic disease if breastfeeding or lactose-containing formulas continue. Neonatal jaundice is among the most prevalent symptoms. Although patients with classic galactosemia mostly demonstrate direct neonatal hyperbilirubinemia (cholestasis), seldom they may initially have indirect hyperbilirubinemia. Herein, we present a newborn with initial neonatal profound indirect hyperbilirubinemia who responded well to intensive phototherapy, then presented with cholestasis and was finally diagnosed as having classic galactosemia. Unfortunately, major textbooks of neonatology and pediatrics are still missing galactosemia as one of the differential diagnoses of neonatal indirect hyperbilirubinemia. It is just mentioned as prolonged or direct neonatal hyperbilirubinemia. We recommend that galactosemia be included in the differential diagnosis of neonatal early indirect hyperbilirubinemia because neonatal screening results may be delayed or missed completely.
半乳糖血症是一种罕见的常染色体隐性代谢紊乱疾病，有三种主要类型。最常见的类型是经典型半乳糖血症。这些患者缺乏1-磷酸半乳糖尿苷转移酶。如果继续母乳喂养或使用含乳糖的配方奶粉，这种酶缺乏往往会导致出现症状性疾病。新生儿黄疸是最常见的症状之一。虽然经典型半乳糖血症患者大多表现为直接性新生儿高胆红素血症（胆汁淤积），但他们最初也很少会出现间接性高胆红素血症。在此，我们报告一例新生儿，最初表现为严重的新生儿间接性高胆红素血症，对强化光疗反应良好，随后出现胆汁淤积，最终被诊断为经典型半乳糖血症。不幸的是，新生儿学和儿科学的主要教科书仍未将半乳糖血症列为新生儿间接性高胆红素血症的鉴别诊断之一。它仅被提及为持续性或直接性新生儿高胆红素血症。我们建议将半乳糖血症纳入新生儿早期间接性高胆红素血症的鉴别诊断，因为新生儿筛查结果可能会延迟或完全遗漏。
