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Galactosemia
Aka: Galactosemia, GALT Deficiency
- See Also
- Inborn Errors of Metabolism
- Inborn Error of Small Molecule Metabolism
- Epidemiology
- Identified in newborn period
- 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
- Symptoms
- Presentation follows milk ingestion after days to weeks
- Vomiting
- Diarrhea
- Dehydration
- Lethargy
- Weight loss
- Signs
- Growth Failure or Failure to Thrive
- Jaundice
- Hepatomegaly (see Hepatomegaly in Newborns)
- Splenomegaly
- Cataracts
- Mental Retardation
- Hypotonia
- 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
- Diagnosis: Identify False Positives on Newborn Screen
- Distinguish Homozygous deficiency from Heterozygotes
- Heterozygotes need no management and are asymptomatic
- Management
- Eliminate lactose from the diet