Metabolism

Galactosemia

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Galactosemia, GALT Deficiency

  • Epidemiology
  1. Identified in newborn period
  • 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
  • Symptoms
  1. Presentation follows milk ingestion after days to weeks
  2. Vomiting
  3. Diarrhea
  4. Dehydration
  5. Lethargy
  6. Weight loss
  • 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
  1. Distinguish Homozygous deficiency from Heterozygotes
  2. Heterozygotes need no management and are asymptomatic
  • Management
  1. Eliminate lactose from the diet