Clinical Case Reports · 4 authors, 3 centres
This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.
A 5-month-old exclusively breastfed infant presented with severe dermatitis and undetectable serum zinc, linked to a novel maternal SLC30A2 mutation causing low breastmilk zinc levels, potentially exacerbated by maternal omeprazole use during pregnancy.
A 5-month-old male infant presented with a 3-month history of worsening periorificial and acral scaly dermatitis, recurrent infections, lethargy, poor feeding, and hair loss while exclusively breastfed. Serum zinc was undetectable at <3 μmol/L and alkaline phosphatase was 41 U/L. Maternal breastmilk zinc was low at 3.15 μmol/L compared to a control mean of 12.7 μmol/L. Genetic testing of the mother identified a novel SLC30A2 variant (c.927G>C, p.Trp309Cys) with an allele frequency of <0.01%, predicted pathogenic by in silico tools. The mother had taken omeprazole 20 mg daily from 30 weeks' gestation to treat GER; her older sibling, also breastfed without maternal PPI exposure, was unaffected. The infant improved rapidly within days of zinc supplementation and achieved normal zinc levels after 3 months of treatment. The authors hypothesize that antenatal PPI exposure compounded the effect of the maternal SLC30A2 mutation on transplacental and transmammary zinc transmission.
