Galactosemia Presenting as Neonatal Hemochromatosis: A Case of Acute Liver Failure Managed Successfully with Medical Therapy

Document Type : Short Communication

Authors

1 American Hospital Dubai, UAE

2 Shifa International Hospital Islamabad, Pakistan

3 Royal Derby University Hospital, United Kingdom

Abstract

Neonatal acute liver failure often has a heterogenous presentation. Extensive workup is essential for prompt diagnosis and efficient treatment. Neonatal hemochromatosis (NH) and Galactosemia are both serious conditions that can manifest with acute liver dysfunction, but they require different treatment approaches. We describe a neonate who presented with acute liver failure, characterized by severe jaundice, deranged liver function and coagulopathy. Diagnostic imaging and other investigations implied a diagnosis of neonatal hemochromatosis due to hepatic and extra hepatic iron deposition along with raised serum alpha fetoprotein and ferritin levels. However, further metabolic testing revealed the diagnosis of classic galactosemia, identified by a deficiency in galactose-1-phosphate uridyltransferase (GALT). Infant showed significant improved with normalization of liver function with antioxidant cocktail and galactose free formula. This case highlights the significance of considering galactosemia in the differential diagnosis of neonatal hemochromatosis-like presentations and the importance for a comprehensive metabolic workup in neonates with liver dysfunction. It also emphasizes that early identification and management can successfully resolve liver dysfunction and prevent the need for liver transplant.

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