drpkaur
Forum Guru
Topics: 196
Posts: 810
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A newborn vomits after each feeding of milk-based formula, and does not gain weight. Biochemical testing
reveals a severe deficiency of galactose-1-phosphate uridyltransferase, consistent with homozygosity.
If this condition goes untreated, what is the likely outcome for this patient?
A. Benign disease except for cataract formation
B. Chronic emphysema appearing in early adulthood
C. Chronic renal failure appearing in adolescence
D. Death in infancy
E. Gastrointestinal symptoms that remit with puberty
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| zzzz
Forum Elite
Topics: 9
Posts: 167
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galactosemia it is not benign.... may be D?
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| drpkaur
Forum Guru
Topics: 196
Posts: 810
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if galactosemia is due to galactokinase deficiency it is benign but if it is due to gal-1P-UDT deficiency it is severe disease leading to death in early life.
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