KEGG   DISEASE: Transient neonatal zinc deficiencyHelp
Entry
H01925                      Disease                                

Name
Transient neonatal zinc deficiency
Description
Transient neonatal zinc deficiency (TNZD) is a disorder caused by loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency in the breast-fed infant. The main initial symptoms of zinc deficiency are dermatitis, diarrhea, alopecia, and loss of appetite. Currently, at least two zinc transporters from separate protein families are now known to be involved in the genetics of zinc deficiency. One is SLC39A4/ZIP4, which mutations can cause acrodermatitis enteropathica (AEZ) [DS:H00212] with autosomal recessive inheritance. The other one is SLC30A2/ZnT2, the transporter responsible for supplying human milk with zinc. Mutations in this transporter cause TNZD with symptoms similar to AE but with autosomal dominant inheritance. The two diseases can be distinguished in affected infants. AE is fatal if zinc is not supplied to the infant after weaning, whereas TNZD is a genetic defect of the mother limiting the supply of zinc in the milk, and therefore the infant usually will obtain enough zinc once weaned. Furthermore, the mothers' blood zinc levels are normal, and zinc supplementation to the mother's diet fails to improve the zinc levels in the breast milk.
Category
Skin and connective tissue disease; Gastrointestinal disease
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H01925  Transient neonatal zinc deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Nutritional disorders
   Undernutrition
    5B5K  Mineral deficiencies
     H01925  Transient neonatal zinc deficiency
BRITE hierarchy
Gene
SLC30A2 [HSA:7780] [KO:K14689]
Other DBs
ICD-11: 5B5K.2
ICD-10: E60
OMIM: 608118
Reference
PMID:7192074
  Authors
Aggett PJ, Atherton DJ, More J, Davey J, Delves HT, Harries JT
  Title
Symptomatic zinc deficiency in a breast-fed preterm infant.
  Journal
Arch Dis Child 55:547-50 (1980)
Reference
  Authors
Golan Y, Kambe T, Assaraf YG
  Title
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
  Journal
Metallomics 9:1352-1366 (2017)
DOI:10.1039/c7mt00162b
Reference
  Authors
Kasana S, Din J, Maret W
  Title
Genetic causes and gene-nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples.
  Journal
J Trace Elem Med Biol 29:47-62 (2015)
DOI:10.1016/j.jtemb.2014.10.003
Reference
  Authors
Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG
  Title
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
  Journal
J Biol Chem 287:29348-61 (2012)
DOI:10.1074/jbc.M112.368159
Reference
  Authors
Chowanadisai W, Lonnerdal B, Kelleher SL
  Title
Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.
  Journal
J Biol Chem 281:39699-707 (2006)
DOI:10.1074/jbc.M605821200

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