Preferred Label : Zinc deficiency, transient neonatal;
Symbol : TNZD;
CISMeF acronym : TNZD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Zinc deficiency, neonatal, due to low breast milk zinc;
Included titles and symbols : Zinc in breast milk, reduced;
Description : Transient neonatal zinc deficiency occurs in breast-fed infants as a consequence of
low milk zinc concentration in their nursing mothers, which cannot be corrected by
maternal zinc supplementation. A large amount of zinc, an essential trace mineral,
is required for normal growth particularly in infants, and breast milk normally contains
adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc
deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune
function. The disorder shows autosomal dominant inheritance with incomplete penetrance
(summary by Chowanadisai et al., 2006). Some aspects of TNZD resemble the more severe
disorder acrodermatitis enteropathica (AEZ; 201100), an autosomal recessive disorder
caused by mutation in the zinc transporter SLC39A4 (607059). However, infants with
transient neonatal zinc deficiency do not require zinc supplementation following weaning
and have normal zinc absorption, whereas those with AEZ require lifelong zinc supplementation
(summary by Chowanadisai et al., 2006).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the solute carrier family 30 (zinc transporter), member 2 gene
(SLC30A2, 609617.0001);
Laboratory abnormalities : Affected mother has reduced zinc levels in breast milk (may be up to 40% less than
normal breast milk); Affected mother has normal plasma zinc levels and is not zinc-deficient; Breastfed offspring have transient decrease of plasma zinc levels;
Prefixed ID : #608118;
Origin ID : 608118;
UMLS CUI : C1842486;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
