CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIn

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIn?

Accepted Answer

rare
autosomal recessive
mutation in the SLC39A8 gene
SLC39A8 deficiency can cause both
- type II CDG
- Leigh-like syndrome
Riley LG et al. 2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIn

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616721

Question 4

Which enzymes are involved?

Accepted Answer

Zinc transporter ZIP8

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIn
Synonym	CDG2N; SLC30A8-CDG
OMIM	616721 OMIM = Online Mendelian Inheritance of Men
Orphanet	468699
Protein (UniProt)	Zinc transporter ZIP8
Gene locus	4q24
ICD	E77.8
Summary	rare autosomal recessive mutation in the SLC39A8 gene SLC39A8 deficiency can cause both - type II CDG - Leigh-like syndrome Riley LG et al. 2017]
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum) Manganese dec (plasma) Zinc dec (plasma) Zinc dec (urine)
Symptoms	cerebellar atrophy or hypoplasia cerebral atrophy defect of walking, running, rising or climbing dwarfism hearing defect, deafness hypotonia impaired visual acuity infantile spasms infections (severe or recurrent) joint hypermobilty, dislocations, laxity nystagmus onset, neonatal psychomotor retardation seizures short stature strabismus