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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId
CDG2D B4GALT1-CDG
607091
OMIM = Online Medalian Inheritance of Men
79332
9p21.1
rare
autosomal recessive
mutation in the beta-1,4-galactosyltransferase gene
symptoms
cholestasis
diarrhea
hydrocephalus
hypotonia
macrocephaly (large calvaria, >2 SD for age)
mental retardation
myopathy
onset, newborn
psychomotor retardation
laboratory finding
Coagulopathy/Coagulation factors decreasedplasma
Creatine kinase increasedserum
IEF of serum transferrin, type 2 pattern abnormalserum
Beta-N-acetylglucosaminylglycopeptide beta-1 decreased activityfibroblasts
Literature
Clayton PTet al.Mitochondrial phosphoenolpyruvate carboxykinase deficiencyEur J Pediatr145046-501986
Nakano Ket al.D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toesJ Pediatr1396865-8672001
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Borisova NVet al.Analysis of collagen hydroxypyridinum crosslinks in samples of tissues and urine of patients with inherited connective tissue disordersConnect Tissue Res303177-1901994