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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Io
CDG1O DMP3-CDG
612937
OMIM = Online Medalian Inheritance of Men
263494
1q22
rare (<1:1000000)
autosomal recessive
symptoms
cardiomyopathy
muscle weakness
strokelike episodes
laboratory finding
Transferrin abnormalserum
Creatine kinase0.000.00 increasedplasmaadult
Transaminases0.000.00 increasedplasmaadult
Literature
Wolf NIet al.Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiencyJ Inher Met Dis270291-2932004