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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
epilepsy
failure to thrive
hepatomegaly (large liver)
hypotonia
inverted nipples
mental retardation
microcephaly (<2 SD for age)
motor retardation
pericardial effusion
renal cysts
seizures
splenomegaly (large spleen)
strabismus
laboratory finding
Transferrin abnormalserum
Coagulopathy/Coagulation factors abnormalplasma
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
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