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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 or dysfunction
mental retardation
microcephaly (<2 SD for age)
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