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Transient Neonatal Zinc Deficiency Caused by a Novel Mutation in the SLC 30A2 Gene
Author(s) -
Liew Hui M.,
Tan Colin W.,
Ho Clement K. M.,
Chee Jade N.,
Koh Mark J. A.
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13065
Subject(s) - zinc deficiency (plant disorder) , zinc , irritability , medicine , mutation , endocrinology , rash , gene , pathology , biology , genetics , chemistry , menopause , micronutrient , organic chemistry
This is a case report of a 4‐month‐old full‐term, fully breastfed boy who presented with a persistent periorificial and groin rash associated with poor weight gain and irritability. His serum zinc level was low. The mother's breast milk zinc level was found to be low despite her serum zinc levels being normal, confirming the diagnosis of transient neonatal zinc deficiency. Mutational analysis revealed a novel mutation in the mother's SLC 30A2 gene, which encodes a zinc transporter expressed in mammary gland epithelial cells.