ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD; FEEDING: BREAST MILK [DD]

Question 1

What is  ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD; FEEDING: BREAST MILK [DD]?

Accepted Answer

very rare
autosomal dominant (mother)
mutation in the maternal SLC30A2 gene
Symptoms occur only in exclusively breastfed infants:
- affected mothers have reduced zinc levels in breast milk
- affected mothers have normal plasma zinc levels
- breastfed infants have transient decrease of plasma zinc levels

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Zinkmangel, transient, neonatal

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608118

Question 4

Which enzymes are involved?

Accepted Answer

Zinc transporter 2

Disease	ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD; FEEDING: BREAST MILK [DD]
Synonym	ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC
OMIM	608118 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Zinc transporter 2
Gene locus	1p36.11
ICD
Summary	very rare autosomal dominant (mother) mutation in the maternal SLC30A2 gene Symptoms occur only in exclusively breastfed infants: - affected mothers have reduced zinc levels in breast milk - affected mothers have normal plasma zinc levels - breastfed infants have transient decrease of plasma zinc levels
Laboratory findings	Zinc dec (breast milk (mother)) Zinc dec (plasma)
Symptoms	alopecia dermatitis diarrhea onset, infancy pain, abdominal skin defects