Table 2.

Frequency of Specific Findings in Symptomatic Neonates with Classic Galactosemia

Finding% of Affected
Neonates w/Finding
Additional Details
Hepatocellular damage 89%Jaundice (74%)
Hepatomegaly (43%)
Abnormal liver function tests (10%)
Coagulation disorders (9%)
Ascites (4%)
Food intolerance 76%Vomiting (47%)
Diarrhea (12%)
Poor feeding (23%)
Failure to thrive 29%
Lethargy 16%
Seizures 1%
Sepsis 10%E coli (26 cases)
Klebsiella (3)
Enterobacter (2)
Staphylococcus (1)
Beta-streptococcus (1)
Streptococcus faecalis (1)

From a survey reporting findings in 270 symptomatic neonates [Waggoner et al 1990]

From: Classic Galactosemia and Clinical Variant Galactosemia

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