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Summary
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (CDG)
PIGM-CDG, GPID
610293
OMIM = Online Medalian Inheritance of Men
83639
1q23.2
rare
autosomal recessive
symptoms
coarse facial features
hepatomegaly (large liver)
portal hypertension
seizures
seizures, absence
splenomegaly (large spleen)
thrombosis
laboratory finding
Sialotransferrins (isoelectrofocussing) normalplasma
Literature
Carrasco M,et al.Glycine N-methyltransferase expression in the hippocampus and its role in neurogenesis and cognitive performanceHippocampus247840-8522014
Fern++¡ndez-++€lvarez S,et al.TRAIL-producing NK cells contribute to liver injury and related fibrogenesis in the context of GNMT deficiencyLab Invest952223-2362015