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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig
CDG1G ALG12-CDG
607143
OMIM = Online Medalian Inheritance of Men
79324
22q13.33
rare
autosomal recessive
mutations in the ALG12 gene developmental delay, low IgG, and genital hypoplasia should prompt CDG testing [Eklund et al. 2005]
symptoms
cardiomyopathy
dysmorphism
edema
failure to thrive
feeding difficulties, poor feeding
gastrointestinal dysmotility
genital hypoplasia
hypotonia
joint hypermobilty, dislocations
limb abnormalities, limb deformities
mental retardation
microcephaly (<2 SD for age)
motor retardation
onset, neonatal
prematurity
seizures
short stature
skeletal changes, skeletal abnormalities
strabismus
laboratory finding
Immunglobulin IgD decreasedserum
Transferrin abnormalserum
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Hug Get al.Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase IIN Engl J Med325018621991
Patterson MCPlatt FTherapy of Niemann-Pick disease, type CBiochim Biophys Acta1685077-822004
Tomoeda Ket al.Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuriaMol Genet Metab713506-5102000
McCormack PLGoa KLMiglustatDrugs63222427-24342003
di Patti MCet al.Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemiaJ Biol Chem28474545-45542009
Trefz FKet al.Unpublished results in 6 patients with isovaleric acidemiaunpublished001995
Blau Net al.Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loadingJ Inherit Metab Dis2232316-2201999