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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg
CDG2G COG1-CDG
611209
OMIM = Online Medalian Inheritance of Men
263508
17q25.1
rare
autosomal recessive
mutation in the COG1 gene
symptoms
cerebellar atrophy or hypoplasia
cerebral atrophy
costovertebral abnormalities
dysmorphism
failure to thrive
feeding difficulties, poor feeding
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
limb abnormalities, limb deformities
mental retardation
microcephaly (<2 SD for age)
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Sialotransferrins (isoelectrofocussing)0.000.00 increasedserum
Literature
Leonard JVet al.Mitochondrial phosphoenolpyruvate carboxykinase deficiencyEur J Pediatr1503198-1991991
Klepper Jet al.Introduction of a ketogenic diet in young infantsJ Inherit Metab Dis256449-4602002
Klepper Jet al.Introduction of a ketogenic diet in young infantsJ Inherit Metab Dis256449-4602002