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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij
CDG1J DPAGT1-CDG
608093
OMIM = Online Medalian Inheritance of Men
86309
11q23.3
very rare (<1:1000000)
autosomal recessive
patients mimic myopathic disorders and are likely to be under-diagnosed [Finlayson S et al. 2013]
symptoms
cataract
clinodactyly
contractures, joints
dysmorphism
epilepsy
hypotonia
infantile spasms
mental retardation
microcephaly
muscle cramps
muscle weakness
myopathy
nystagmus
onset, newborn
seizures
speech development, delayed, abnormal
strabismus
laboratory finding
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Gregersen Net al.Mitochondrial fatty acid oxidation defects--remaining challengesJ Inherit Metab Dis315643-6872008
Ariyananda Lde Zet al.Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutantsBiochemistry48235291-53022009
Gregersen Net al.Mitochondrial fatty acid oxidation defects--remaining challengesJ Inherit Metab Dis315643-6872008
Gregersen Net al.Mitochondrial fatty acid oxidation defects--remaining challengesJ Inherit Metab Dis315643-6872008
van den Berg IETBerger RPhosphorylase b kinase deficiency in man: a reviewJ Inherit Metab Dis1304421990
Hubbard WCet al.Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) methodMol Genet Metab973312-3202009