CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIa; N-Acetyl-Glukosaminyltransferase 2-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 212066

Question 4

Which enzymes are involved?

Accepted Answer

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa
Synonym	CDG2A; MGAT2-CDG; ALKURAYA SYNDROME
OMIM	212066 OMIM = Online Mendelian Inheritance of Men
Orphanet	79329
Protein (UniProt)	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Gene locus	14q21.3
ICD	E77.8
Summary	very rare autosomal recessive
Laboratory findings	Carbohydrate-deficient transferrins inc (serum) Disialotransferrin inc (serum) IEF of serum transferrin, type 2 pattern (serum) N-Acetylglukosaminyltransferase II dec (fibroblasts) Tetrasialotransferrin dec (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	behavior, abnormal or bizarre, confusion Coagulopathy/Coagulation factors congenital heart defect decreased body height diarrhea dysmorphism epilepsy failure to thrive growth retardation, poor growth heart involvement hemangioma hydrops fetalis hypotonia liver involvement or dysfunction macrocephaly (large calvaria, >2 SD for age) mental retardation microcephaly (<2 SD for age) motor retardation muscular dystrophy onset, childhood onset, neonatal seizures short stature skoliosis, kyphoskoliosis X-ray, abnormalities