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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb
GLUCOSIDASE I DEFICIENCYGCS1-CDG
606056
OMIM = Online Medalian Inheritance of Men
79330
2p13.1
very rare
autosomal recessive
symptoms
bone fractures
cerebral atrophy
dysmorphism
feeding difficulties
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
infantile spasms
liver involvement (acute, chronic, hepatitis)
mental retardation
motor retardation
onset, infant
optic atrophy
seizures
skeletal changes
skin, pigmentation
laboratory finding
Coagulopathy/Coagulation factors decreasedplasma
Sialotransferrins (isoelectrofocussing)0.000.00 normalserumall
Oligosaccharides0.000.00 increasedurineall
Immunoglobulines0.000.00 decreasedserumall
Literature
Byers PHEhlers-Danlos syndrome (EDS): recent advances and current understanding of the clinical and genetic heterogeneityJ Invest Dermatol Suppl1030S47-S521994
Michelakakis HDimitriou E, Labadaridis IThe expanding spectrum of disorders with elevated plasma chitotriosidase activity: an updateJ Inherit Metab Dis275705-7062004
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Garcia-Pavia Pet al.Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young womanArthritis Rheum4872036-20412003
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Blane CEZerin JM, Bloom DABladder diverticula in childrenRadiology1903695-6971994