Open AccessA Case of Classic Galactosemia Manifesting as Neonatal Early and Profound Indirect hyperbilirubinemia
Author(s) -
Zohreh Kavehmanesh,
Mohammad Torkaman,
Fatemeh Beiraghdar
Publication year - 2019
Publication title -
türk pediatri arşivi : i̇stanbul çocuk kliniği dergisi
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.237
H-Index - 11
ISSN - 1306-0015
DOI - 10.14744/turkpediatriars.2019.21298
Subject(s) - galactosemia , medicine , pediatrics , gastroenterology , jaundice , neonatal cholestasis , cholestasis , endocrinology , biliary atresia , galactose , biochemistry , chemistry , transplantation , liver transplantation
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.