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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe
CDG2E COG7-CDG
608779
OMIM = Online Medalian Inheritance of Men
79333
16p12.2
rare
autosomal recessvie
symptoms
dysmorphism
early death
failure to thrive
feeding difficulties, poor feeding
growth retardation
heart involvement
hepatomegaly (large liver)
hyperthermia
hypotonia
infections (severe or recurrent)
limb abnormalities, limb deformities
microcephaly (<2 SD for age)
seizures
skin, abnormal
splenomegaly (large spleen)
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Creatine kinase0.000.00 normal-increasedplasmaall
Transaminases0.000.00 normal-increasedplasmaall
Literature
Leonard JVet al.Mitochondrial phosphoenolpyruvate carboxykinase deficiencyEur J Pediatr1503198-1991991
Vidnes JSovik, OGluconeogenesis in infancy and childhood. III. Deficiency of the extramitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemiaActa Paediat. Scand650307-3121976
Lukkarinen Met al.Oral supplementation corrects plasma lysine concentrations in lysinuric protein intoleranceMetabolism527935-9382003
Bodnar AGet al.Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletionAm J Hum Genet533663-6691993
Kuribayashi Iet al.A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasiaEndocr Res294377-3812003
Bodnar AGet al.Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletionAm J Hum Genet533663-6691993