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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-If
CDG1F MPDU1-CDG
609180
OMIM = Online Medalian Inheritance of Men
79323
17p13.1
very rare
autosomal recessive
defect in the gene MPDU1
symptoms
ataxia
blindness, visual loss, visual impairment
cerebral atrophy
contractures, joints
failure to thrive
feeding difficulties, poor feeding
hypotonia
impaired visual acuity
mental retardation
motor retardation
nystagmus
onset, neonatal
seizures
skin rash, eczematous or seborrhoic
speech development, delayed, abnormal
vomiting
laboratory finding
EEG abnormalities -
MRI, brain, abnormalities -
Transferrin abnormalserum
Antithrombin III (AT III) 50% activityplasma
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Wilcken Bet al.Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancyN Engl J Med30508651981
Yasukura Ket al.A mild case of nesidioblastosis with diagnostic and therapeutic difficultiesActa Paediatr Jpn350258-2611993
Lachmann RHet al.Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type CNeurobiol Dis163654-6582004