Galactosemia

Aka: Galactosemia, GALT Deficiency

1. See Also
   1. Inborn Errors of Metabolism
   2. Inborn Error of Small Molecule Metabolism
2. Epidemiology
   1. Identified in newborn period
3. Pathophysiology
   1. Autosomal recessive trait
   2. Galactose-1-Phosphate Uridyl Transferase Deficiency
      1. Most common of 3 genetic defects causing Galactosemia
   3. Failure to convert galactose to glucose
   4. Results in fatty Cirrhosis of the liver
4. Symptoms
   1. Presentation follows milk ingestion after days to weeks
   2. Vomiting
   3. Diarrhea
   4. Dehydration
   5. Lethargy
   6. Weight loss
5. Signs
   1. Growth Failure or Failure to Thrive
   2. Jaundice
   3. Hepatomegaly (see Hepatomegaly in Newborns)
   4. Splenomegaly
   5. Cataracts
   6. Mental retardation
   7. Hypotonia
6. Labs
   1. Galactosemia
   2. Erythrocyte Galactose-1-Phosphate uridyl transferase
      1. Activity diminished
   3. Liver Function Tests increased
   4. ProTime (INR) may be elevated
   5. Urine exam
      1. General Findings
         1. Galactosuria
         2. Aminoaciduria
         3. Albuminuria
      2. Following milk ingestion
         1. Urine reducing substances positive
         2. Urine Glucose negative
7. Diagnosis: Identify false positives on Newborn Screen
   1. Distinguish homozygous deficiency from heterozygotes
   2. Heterozygotes need no management and are asymptomatic
8. Management
   1. Eliminate lactose from the diet