CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu?

Accepted Answer

rare
autosomal recessive
mutation in the DPM2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Iu

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615042

Question 4

Which enzymes are involved?

Accepted Answer

Dolichol phosphate-mannose biosynthesis regulatory protein

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
Synonym	CDG1U
OMIM	615042 OMIM = Online Mendelian Inheritance of Men
Orphanet	329178
Protein (UniProt)	Dolichol phosphate-mannose biosynthesis regulatory protein
Gene locus	3q34.11
ICD	E77.8
Summary	rare autosomal recessive mutation in the DPM2 gene
Laboratory findings	Creatine kinase inc (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	abnormal movement cerebellar atrophy or hypoplasia contractures, joints feeding difficulties, poor feeding hypotonia microcephaly (<2 SD for age) onset, neonatal optic atrophy psychomotor retardation respiratory distress seizures small chin or micrognathia strabismus