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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa
CDG2A MGAT2-CDG ALKURAYA SYNDROME
212066
OMIM = Online Medalian Inheritance of Men
79329
14q21.3
  • no specific treatment
very rare
autosomal recessive
symptoms
behavior, abnormal or bizarre, confusion
Coagulopathy/Coagulation factors
congenital heart defect
diarrhea
dysmorphism
epilepsy
failure to thrive
growth retardation
heart involvement
hemangioma
hypotonia
liver involvement or dysfunction
macrocephaly (large calvaria, >2 SD for age)
mental retardation
microcephaly (<2 SD for age)
motor retardation
onset, childhood
onset, neonatal
seizures
short stature
skoliosis, kyphoskoliosis
X-ray, abnormalities
laboratory finding
Carbohydrate-deficient transferrins 12.0024.00increasedserum
Transaminases 10.0030.00increasedserum
Tetrasialotransferrin 50.0065.00decreasedserum
Disialotransferrin 8.00increasedserum
N-Acetylglukosaminyltransferase II decreased activityfibroblasts
IEF of serum transferrin, type 2 pattern abnormalserumall
Literature
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Michelakakis HDimitriou E, Labadaridis IThe expanding spectrum of disorders with elevated plasma chitotriosidase activity: an updateJ Inherit Metab Dis275705-7062004
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Michelakakis HDimitriou E, Labadaridis IThe expanding spectrum of disorders with elevated plasma chitotriosidase activity: an updateJ Inherit Metab Dis275705-7062004