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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIL
CGD2L COG6-CDG
614576
OMIM = Online Medalian Inheritance of Men
646443
13q14.11
rare
autosomal recessive
symptoms
bleeding tendencies, hemorrhages
cirrhosis or fibrosis of liver
diarrhea
early death
failure to thrive
hepatomegaly (large liver)
hyperkeratosis
hyperthermia
hypotonia
infections (severe or recurrent)
microcephaly (<2 SD for age)
onset, neonatal
psychomotor retardation
seizures
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Immunglobulin IgD decreasedserum
Literature
Duffner KPet al.The hunters hope Krabbe family databasePediatr Neurol40013-182009
Yis UKurul SH, Dirik ENonketotic hyperglycinemia and acquired hydrocephalusPediatr Neurol402138-1402009
Aberg Let al.A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease coursePediatr Neurol402134-1372009
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