All Subjects Medicine Surgery Pathology Anatomy Pharmacology Social & Preventive Medicine Microbiology Gynaecology & Obstetrics Dental Physiology Biochemistry Pediatrics
Showing 15321 questions
Sort:
9594 Pathology

An infant appears normal at birth following an uncomplicated pregnancy and begins to nurse. Within 3 days the infant exhibits vomiting and diarrhea. A week later jaundice is evident, and the infant becomes febrile. On physical examination hepatomegaly is present. Laboratory studies show abnormal reducing substances in the urine, and Escherichia coli is cultured from blood. This infant most likely has a deficiency in which of the following enzymes?

AGalactose-1-phosphate uridyltransferase
BGlucocerebrosidase
CPhenylalanine hydroxylase
DSphingomyelinase
Pathology
View Explanation →