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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj
CDG2J COG4-CDG
613489
OMIM = Online Medalian Inheritance of Men
263501
16q22.1
rare
autosomal recessive
mutation in the COG4 gene
symptoms
ataxia
Coagulopathy/Coagulation factors
diarrhea
dysmorphism
failure to thrive
hepatomegaly (large liver)
hyperreflexia
hypotonia
infections (severe or recurrent)
irritability
liver failure
microcephaly (<2 SD for age)
nystagmus
seizures
speech development, delayed, abnormal
laboratory finding
Transaminases increasedserum
Phosphatase, alkaline increasedserum
Thrombocytes, Platelets decreasedblood
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
Scheuerman OetMitochondrial trifunctional protein deficiency with recurrent rhabdomyolysisPediatr Neurol406465-4672009