A newborn vomits after each feeding of milk-based formula and does not gain weight. Biochemical testing reveals a severe deficiency of galactose-1-pho

Subject
Paediatrics
System
Endocrine, Diabetes & Metabolism

Kathryn

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Jul 29, 2020
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Singapore
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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, which of the following 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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