CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij

Q: What is CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij?

very rare (<1:1000000) autosomal recessive mutation in the DPAGT1 gene patients mimic myopathic disorders and are likely to be under-diagnosed [Finlayson S et al. 2013]

Q: Gibt es eine deutsche Bezeichnung?

CDG-Syndrom Typ Ij; Dolichol-Phosphat N-Acetylglucosamin 1-Phosphat-Transferase-Mangel

Q: Which enzymes are involved?

UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij?

Accepted Answer

very rare (<1:1000000)
autosomal recessive
mutation in the DPAGT1 gene
patients mimic myopathic disorders and are likely to be under-diagnosed [Finlayson S et al. 2013]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ij; Dolichol-Phosphat N-Acetylglucosamin 1-Phosphat-Transferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608093

Question 4

Which enzymes are involved?

Accepted Answer

UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij
Synonym	CDG1J; DPAGT1-CDG
OMIM	608093 OMIM = Online Mendelian Inheritance of Men
Orphanet	86309
Protein (UniProt)	UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase
ExPASy	2.7.8.15
Gene locus	11q23.3
ICD	E77.8
Summary	very rare (<1:1000000) autosomal recessive mutation in the DPAGT1 gene patients mimic myopathic disorders and are likely to be under-diagnosed [Finlayson S et al. 2013]
Laboratory findings	IEF of serum transferrin, type 1 pattern (serum)
Symptoms	cataract clinodactyly contractures, joints dysmorphism epilepsy hypotonia infantile spasms mental retardation microcephaly (<2 SD for age) muscle cramps muscle weakness myopathy nystagmus onset, neonatal seizures speech development, delayed, abnormal strabismus