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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iy
CDG1Y SSR4-CDG
300934
OMIM = Online Medalian Inheritance of Men
370927
Xq28
rare
x-linked recessive
symptoms
bleeding tendencies, hemorrhages
clinodactyly
dysmorphism
failure to thrive
feeding difficulties, poor feeding
hypospadia
hypotonia
joint hypermobilty, dislocations
macrocephaly (large calvaria, >2 SD for age)
onset, newborn
psychomotor retardation
respiratory distress
seizures
strabismus
laboratory finding
Carbohydrate-deficient transferrins abnormalserum
Sialotransferrins (isoelectrofocussing) abnormalserum
Literature
Ceruti M,et al.Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case reportOrphanet J Rare Dis2142007
Congdon PJ,et al.Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy babyJ Inherit Metab Dis4279-801981