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Biochemistry · Vitamins and minerals: acrodermatitis enteropathica
Sample itemAn infant develops vesiculobullous lesions around the mouth and anus, diarrhoea and hair loss soon after weaning from breast milk. Serum alkaline phosphatase is low. Oral supplementation of a trace element cures the illness. Which defect is most likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Defective intestinal zinc uptake transporter
Acrodermatitis enteropathica is an autosomal recessive defect of the intestinal zinc transporter ZIP4. Zinc is available from breast milk in a more absorbable form, so signs appear after weaning. Low alkaline phosphatase reflects the zinc needed by that enzyme.
Option by option
A. Defective copper-transporting ATPase
A copper ATPase defect gives Menkes disease with kinky hair and neurodegeneration.
B. Absent biotinidase activity
Biotinidase deficiency also causes rash and alopecia but does not lower alkaline phosphatase or respond to a trace element.
C. Defective neutral amino acid transporter
A neutral amino acid transporter defect causes Hartnup disease with a pellagra-like rash, not periorificial dermatitis with diarrhoea.
D. Defective intestinal zinc uptake transporter (correct)
Correct. Failure of intestinal zinc uptake explains the periorificial dermatitis and the response to zinc.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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