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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi CDG-IIi
CDG2I COG5-CDG
613612
OMIM = Online Medalian Inheritance of Men
263487
7q22.3
rare
autosomal recesive
mutation in the COG5 gene
symptoms
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
dwarfism
epilepsy
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
mental retardation
microcephaly (<2 SD for age)
psychomotor retardation
seizures
skoliosis, kyphoskoliosis
strabismus
laboratory finding
Sialotransferrins (isoelectrofocussing)0.000.00 increasedserumall
IEF of serum transferrin, type 2 pattern abnormalserumall
Literature
Leonard JVet al.Mitochondrial phosphoenolpyruvate carboxykinase deficiencyEur J Pediatr1503198-1991991
Koch RMaternal phenylketonuria: the importance of early control during pregnancyArch Dis Child902114-1152005
Hanley WBet al.Maternal Phenylketonuria Collaborative Study (MPKUCS)--the outliersJ Inherit Metab Dis276711-7232004
Lee PJet al.Maternal phenylketonuria: report from the United Kingdom Registry 1978-97Arch Dis Child902143-1462005