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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj
CDG2J
613489
OMIM = Online Medalian Inheritance of Men
263501
16q22.1
rare
autosomal recessive
symptoms
ataxia
diarrhea
dysmorphism
failure to thrive
hepatomegaly (large liver)
hyperreflexia
hypotonia
infections (severe or recurrent)
irritability
liver failure
microcephaly
nystagmus
seizures
speech development, delayed, abnormal
laboratory finding
Transaminases increasedserum
Phosphatase, alkaline increasedserum
Thrombocytes, Platelets decreasedblood
Coagulopathy/Coagulation factors
Coagulopathy/Coagulation factors abnormalblood
Literature
Yu Het al.Human PCK1 encoding phosphoenolpyruvate carboxykinase is located on chromosome 20q13.2Genomics151219-2211993
Klepper JVoit TFacilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a reviewEur J Pediatr1616295-3042002