II. Epidemiology

  1. Identified in newborn period

III. 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

IV. Symptoms

  1. Presentation follows milk ingestion after days to weeks
  2. Vomiting
  3. Diarrhea
  4. Dehydration
  5. Lethargy
  6. Weight loss

VI. 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

VII. Diagnosis: Identify False Positives on Newborn Screen

  1. Distinguish Homozygous deficiency from Heterozygotes
  2. Heterozygotes need no management and are asymptomatic

VIII. Management

  1. Eliminate lactose from the diet

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