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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc
CDG2C SLC35C1-CDG LEUKOCYTE ADHESION DEFICIENCY, TYPE II RAMBAM-HASHARON SYNDROME CDG-IIc
266265
OMIM = Online Medalian Inheritance of Men
99843
11p11.2
rare (<1:1000000)
autosomal recessive
symptoms
cerebral atrophy
dysmorphism
growth retardation
hypotonia
infections (severe or recurrent)
mental retardation
microcephaly
motor retardation
seizures
short stature
laboratory finding
Sialotransferrins (isoelectrofocussing)0.000.00 normalserumall
IEF of serum transferrin normalserumall
Literature
Hommes FAet al.Two cases of phosphoenolpyruvate carboxykinase deficiencyActa Paediatr Scand652233-2401976
Ahmed Met al.Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetaseJ Biol Chem274117482-74881999
Ensenauer Ret al.Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscleMol Genet Metab823208-2132004
Item CBet al.Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humansAm J Hum Genet6951127-11332001
Tsukahara Met al.Occipital horn syndrome: report of a patientClin Genet45032-351994
Caldeira Araujo Het al.Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardationAm J Med Genet A1332122-1272005
Battini Ret al.Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigreeMol Genet Metab774326-3312002
Battini Ret al.Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigreeMol Genet Metab774326-3312002