Galactosemia Presenting as Neonatal Hemochromatosis: A Case of Acute Liver Failure Managed Successfully with Medical Therapy | ||
| Annals of Neonatology | ||
| Articles in Press, Accepted Manuscript, Available Online from 29 March 2025 | ||
| Document Type: Original Article | ||
| DOI: 10.21608/anj.2025.367036.1110 | ||
| Authors | ||
| Rabia Shah* 1; Arun Thomas1; Yasser Masood2; Qamar Ali3 | ||
| 1American Hospital Dubai, UAE | ||
| 2Shifa International Hospital Islamabad, Pakistan | ||
| 3Royal Derby University Hospital, United Kingdom | ||
| Abstract | ||
| Introduction: Neonatal acute liver failure (NALF) is a rare, life-threatening condition often caused by metabolic, infectious, or genetic disorders. Among its various causes, neonatal hemochromatosis (NH) and classic galactosemia can present similarly with acute liver dysfunction but require distinct treatments. We report a case of galactosemia with a rare presentation resembling neonatal hemochromatosis. Case Description: A 1-month-old male infant was referred for acute liver failure management, showing severe jaundice, coagulopathy, and elevated liver enzymes. Initial tests suggested NH, with high serum ferritin and alpha-fetoprotein levels and imaging indicating hepatic and extrahepatic iron deposition. However, metabolic testing confirmed classic galactosemia through a deficiency in galactose-1-phosphate uridyl transferase (GALT). After starting treatment with an antioxidant cocktail and a galactose-free formula, the infant showed rapid improvement, with normalization of liver function tests and resolution of coagulopathy. Discussion: This case highlights the importance of considering galactosemia in the differential diagnosis when NH-like symptoms are present in neonates. The overlapping clinical and biochemical features can lead to misdiagnosis and improper treatment. A thorough metabolic workup, including enzyme assays and genetic testing, is essential for accurate diagnosis. Early diagnosis of galactosemia allows for prompt dietary intervention, preventing further liver dysfunction. Conclusion: This case underscores the importance of recognizing metabolic disorders like galactosemia in neonates with liver dysfunction. Timely diagnosis and treatment can improve outcomes, reduce the need for liver transplantation, and emphasize the role of metabolic screening in neonatal care | ||
| Keywords | ||
| Pediatric Gastroenterology; Hepatology; Hepatic metabolic disorder; Neonatology | ||
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