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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 (<2 SD for age)
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