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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 (<2 SD for age)
muscle cramps
muscle weakness
myopathy
nystagmus
onset, neonatal
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