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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIf
CDG2F SLC35A1
603585
OMIM = Online Medalian Inheritance of Men
238459
6q15
very rare
autosomal recessive
symptoms
bleeding tendencies, hemorrhages
early death
epilepsy
infections (severe or recurrent)
neutropenia (decreased neutrophils)
onset, infancy
petechiae
seizures
thrombopenia, thrombocytopenia
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserumadult
Protein0.000.00 increasedurineall
Thrombocytes, Platelets0.000.00 decreasedblood
Literature
Stromberger CBodamer OA, Stockler-Ipsiroglu SClinical characteristics and diagnostic clues in inborn errors of creatine metabolismJ Inherit Metab Dis260299-2302003
Suzuki Met al.Cloning and reporter analysis of human mitochondrial phosphoenolpyruvate carboxykinase gene promoterGene3380157-1622004
Suzuki Met al.Cloning and reporter analysis of human mitochondrial phosphoenolpyruvate carboxykinase gene promoterGene3380157-1622004
Stromberger CBodamer OA, Stockler-Ipsiroglu SClinical characteristics and diagnostic clues in inborn errors of creatine metabolismJ Inherit Metab Dis260299-2302003