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A 9-Month-Old Child Is Presented to the Emergency Room by His

Question 1

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A 9-month-old child is presented to the emergency room by his parents who report that he has been vomiting and has severe diarrhea. The episodes of vomiting began when the parents started feeding their child cow's milk. The infant exhibits signs of failing to thrive. Laboratory tests show elevated blood galactose, hypergalactosuria, metabolic acidosis, albuminuria, and hyperaminoaciduria. These clinical and laboratory findings are most consistent with which of the following disorders?


A) alkaptonuria
B) essential fructosuria
C) hereditary galactosemia
D) Menkes disease
E) von Gierke disease

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