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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIo
CDG2O CCDC115-CDG
616828
OMIM = Online Medalian Inheritance of Men
648684
2q21.2
rare
autosomal recessive
symptoms
cirrhosis or fibrosis of liver
dysmorphism
hepatomegaly (large liver)
hypotonia
jaundice
liver failure
muscle atrophy
onset, infancy
psychomotor retardation
ptosis (drooping eyelid)
seizures
splenomegaly (large spleen)
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Ceruloplasmin decreasedserum
Creatine kinase increasedserum
Transaminases increasedserum
Cholesterol increasedserum
Literature
Wortmann SBet al.Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategyBrain1320136-1462009