Diagnosis and Management of Galactosemia

Diagnostic Testing

• The American College of Medical Genetics recommends testing for plasma amino acids to check for elevated tyrosine, and urine succinylacetone to exclude tyrosinemia type I, in infants presenting with symptoms of galactosemia 1
• Liver synthetic function tests, such as PT, PTT, albumin, and bilirubin, should be performed to assess the severity of liver disease in galactosemia 1

Critical Management Principles

• The American Thoracic Society recommends providing supportive care for liver failure, including vitamin K administration for coagulopathy, in patients with galactosemia 2, 3
• The American Academy of Pediatrics recommends immediately eliminating all galactose/lactose from the diet, and switching to soy-based or lactose-free formula, in infants with suspected galactosemia 2, 3

Key Differential Diagnoses to Exclude

• Tyrosinemia Type I should be considered in the differential diagnosis, and can be diagnosed by elevated succinylacetone, according to the American College of Medical Genetics 1
• Alpha-1 antitrypsin deficiency should be considered in the differential diagnosis, and can present with hepatomegaly and coagulopathy, but typically without cataracts, according to the American Thoracic Society 2, 3