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119094 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
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119096 Pediatrics

Kinky hair disease is a disorder where the affected child has a peculiar white stubby hair, growth retardation, brain degeneration, and dies by age of 2 years. Mrs. A is hesitant about having children because her two sisters had sons who had died from kinky hair disease. Her mother&;s brother also died of the same condition. Which is the possible mode of inheritance in her family?

AX-linked recessive
BX-linked dominant
CAutosomal recessive
DAutosomal dominant
Pediatrics
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