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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie
CDG1E DPM1-CDG
608799
OMIM = Online Medalian Inheritance of Men
79322
20q13.13
rare
autosomal recessive
symptoms
ataxia
blindness, visual loss, visual impairment
dysmorphism
encephalopathy
hemangioma
hydrops fetalis
hypotonia
liver involvement (acute, chronic, hepatitis)
mental retardation
microcephaly
motor retardation
onset, neonatal
optic atrophy
seizures
speech development, delayed, abnormal
strabismus
teleangiectasia
laboratory finding
Antithrombin III (AT III) decreasedplasma
IEF of serum transferrin, type 1 pattern abnormalserum
Creatine kinase increasedserum
Literature
Elstein Det al.Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher diseaseJ Inherit Metab Dis276757-7662004
McCormack PLGoa KLMiglustatDrugs63222427-24342003
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Ogata M,Wang DH, Ogino KMammalian acatalasemia: the perspectives of bioinformatics and genetic toxicologyActa Med Okayama626121-1222008