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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
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
Coagulopathy/Coagulation factors abnormalplasma
IEF of serum transferrin, type 2 pattern abnormalserumall
Literature
Nyhan WLInherited hyperuricemic disordersContrib Nephrol147022-342005
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Michelakakis HDimitriou E, Labadaridis IThe expanding spectrum of disorders with elevated plasma chitotriosidase activity: an updateJ Inherit Metab Dis275705-7062004
Michelakakis HDimitriou E, Labadaridis IThe expanding spectrum of disorders with elevated plasma chitotriosidase activity: an updateJ Inherit Metab Dis275705-7062004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Pearl PLet al.Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiencyNeurology736423-4292009
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Gibson KMCraigen W, Herman GE, Jakobs CD-2-Hydroxyglutaric Aciduria in a Newborn with Neurological Abnormalities: A New Neurometabolic Disorder?J Inherit Metab Dis160497-5001993
Kandula T,Peters H, Fahey MCobalamin E defect, a rare inborn error of vitamin B12 metabolism: value of early diagnosis and treatmentJ Clin Neurosci21101815-18172014
Byers PHDisorders of collagen biosynthesis and structureThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31344029-40771995
Michelakakis HDimitriou E, Labadaridis IThe expanding spectrum of disorders with elevated plasma chitotriosidase activity: an updateJ Inherit Metab Dis275705-7062004