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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIn
CDG2N SLC30A8-CDG
616721
OMIM = Online Medalian Inheritance of Men
468699
4q24
rare
autosomal recessive
SLC39A8 deficiency can cause both a type II CDG and Leigh-like syndrome [Riley LG et al. 2017]
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
nystagmus
onset, neonatal
psychomotor retardation
seizures
short stature
strabismus
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Zinc decreasedurine, plasma
Manganese decreasedurine, plasma
Literature
Sueda Yet al.Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein geneRinsho Shinkeigaku496358-3632009
Sreedharan Jet al.Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbancesNeurology68161322-13232007
Tabatabaie Let al.Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kineticsHum Mutat305749-7562009