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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ir
CDG1R DDOST-CDG
614507
OMIM = Online Medalian Inheritance of Men
300536
1p36.12
very rare
autosomal recessive
symptoms
constipation
failure to thrive
hypotonia
infections (severe or recurrent)
liver involvement or dysfunction
onset, infancy
psychomotor retardation
speech development, delayed, abnormal
strabismus
laboratory finding
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Ide Set al.Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiencyBrain Dev002009