II. Epidemiology
- Identified in newborn period
III. Pathophysiology
- Autosomal Recessive trait
- Galactose-1-Phosphate Uridyl Transferase Deficiency
- Most common of 3 genetic defects causing Galactosemia
- Failure to convert galactose to Glucose
- Results in fatty Cirrhosis of the liver
IV. Symptoms
- Presentation follows milk ingestion after days to weeks
- Vomiting
- Diarrhea
- Dehydration
- Lethargy
- Weight loss
V. Signs
- Growth Failure or Failure to Thrive
- Jaundice
- Hepatomegaly (see Hepatomegaly in Newborns)
- Splenomegaly
- Cataracts
- Mental Retardation
- Hypotonia
VI. Labs
- Galactosemia
- Erythrocyte Galactose-1-Phosphate uridyl transferase
- Activity diminished
- Liver Function Tests increased
- ProTime (INR) may be elevated
-
Urine Exam
-
General Findings
- Galactosuria
- Aminoaciduria
- Albuminuria
- Following milk ingestion
- Urine reducing substances positive
- Urine Glucose negative
-
General Findings
VII. Diagnosis: Identify False Positives on Newborn Screen
- Distinguish Homozygous deficiency from Heterozygotes
- Heterozygotes need no management and are asymptomatic
VIII. Management
- Eliminate lactose from the diet