Literature review and outcome of classic galactosemia diagnosed in the neonatal period

Abstract

Background: The aim of this study was to evaluate the features and outcome of classic galactosemia diagnosed in the neonatal period.

Methods: A retrospective study was carried out on 22 newborns with classic galactosemia who were followed-up in a tertiary neonatal intensive care unit from January 2005 to January 2011.

Results: During the study period, 22 (18 boys, 4 girls) newborns were diagnosed with classic galactosemia. The median gestational age was 38 weeks (31 - 42) with a median age of 13 (3 - 23) days on admission. Major presenting symptoms were hepatomegaly (n = 22, 100%), jaundice [n = 19, 86%; including (n = 14, 63%) indirect and (n = 8, 36%) direct hyperbilirubinemia], vomiting (n = 17, 77%), and nuclear cataract (n = 15, 68%). Liver dysfunction (n = 22, 100%), Escherichia coli sepsis (n = 10), purpura fulminans (n = 1), hemophagocytosis (n = 1), and long QT syndrome (n = 1) were also noted. Cataract resolved in 11 (73%) patients with galactose-restricted diet in the first months. Four patients were operated for cataracts. Neurodevelopmental evaluation showed mild psychomotor retardation in one patient, learning disabilities in five, and developmental delay in three. None died from galactosemia or its complications. Patients who were diagnosed before 17 days did not require cataract operation.

Conclusions: Early diagnosis of galactosemia and treatment with a galactose-restricted diet could partially prevent and recover complications of the disease, but not all of them. Cataracts can develop even in the first few weeks of life. Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity.