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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIL
CGD2L COG6-CDG
614576
OMIM = Online Medalian Inheritance of Men
464443
13q14.11
rare
autosomal recessive
mutation in the COG6 gene
symptoms
bleeding tendencies, hemorrhages
cirrhosis or fibrosis of liver
diarrhea
early death
failure to thrive
growth retardation, poor growth
hepatomegaly (large liver)
hydrops fetalis
hyperkeratosis
hyperthermia
hypotonia
infections (severe or recurrent)
liver involvement or dysfunction
microcephaly (<2 SD for age)
onset, neonatal
psychomotor retardation
seizures
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Immunglobulin IgD mg/dlserum
Literature
Duffner KPet al.The hunters hope Krabbe family databasePediatr Neurol40013-182009
Yis UKurul SH, Dirik ENonketotic hyperglycinemia and acquired hydrocephalusPediatr Neurol402138-1402009
Schulpis KH,et al.Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare casesJ Pediatr Endocrinol Metab307778-7792017
Aberg Let al.A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease coursePediatr Neurol402134-1372009
Fridovich-Keil J,et al.Epimerase Deficiency GalactosemiaGeneReviews-« Internet002016
Kikuchi Get al.Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemiaProc Jpn Acad Ser B Phys Biol Sci844246-2632008
Sakai NPathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatmentBrain Dev317485-4872009