Visit Metagene.de!
Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il
CDG IL ALG9-CDG
608776
OMIM = Online Medalian Inheritance of Men
79328
11q23.1
very rare
autosomal recessive
mutation in the ALG9 gene
symptoms
cerebral atrophy
Coagulopathy/Coagulation factors
dysmorphism
epilepsy
failure to thrive
hepatomegaly (large liver)
hypotonia
inverted nipples
lipodystrophia
mental retardation
microcephaly (<2 SD for age)
motor retardation
pericardial effusion
renal cysts
seizures
splenomegaly (large spleen)
strabismus
laboratory finding
Transferrin abnormalserum
Albumin0.000.00 normal-decreasedserumall
Cholesterol0.000.00 normal-decreasedserumall
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Zhang Xet al.Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1J Mol Biol3310643-6522003
Kihara H,et al.Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazinesPediatrics512223-2291973
Yorifuji Tet al.Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implicationsHum Genet1112161-1652003
Wright ECet al.Glutathionuria: gamma-glutamyl transpeptidase deficiencyJ Inherit Metab Dis213-71980
Iida Met al.Two Japanese brothers with hereditary gamma-glutamyl transpeptidase deficiencyJ Inherit Metab Dis. 200528(1):49-5528149-552005
Imrie Jet al.Niemann-Pick disease type C in adultsJ Inherit Metab Dis256491-5002002
Matern Det al.Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometryPediatrics112074-782003