Congenital Galactosemia

Before the widespread use of newborn screening programs, galactosemia often presented with Escherichia coli sepsis late in the newborn period. Although newborn screening results are often available within 1 to 2 weeks, it is important to remember the subtle clinical features that may present themselves earlier in the clinical course. Recognition of the clinical presentation and knowledge of the tests necessary to diagnose the disease can lead to early detection and immediate interventions, thereby decreasing the severity of long-term outcomes. This review focuses on galactosemia, with an emphasis on classic galactosemia: the pathophysiology, genetics, clinical features both in the neonatal period as well as later in infancy and childhood, screening and diagnostic testing, and treatment and management strategies.

Source: NeoReviews recent issues - March 31, 2017 Category: Pediatrics Authors: Grady, N. E. G., Millard, D. Tags: Pediatric Drug Labeling Update Articles Source Type: news