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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 (MODY2)
MODY, TYPE 2 MODY, GLUCOKINASE-RELATED
125851
OMIM = Online Medalian Inheritance of Men
552
7p13
rare
autosomal dominant
mutation in the GCK gene
symptoms
diabetes mellitus
hyperglycemia
laboratory finding
D-Glucose increasedblood
Literature
Das AM,Steuerwald U, Illsinger SInborn Errors of Energy Metabolism Associated with MyopathiesJournal of Biomedicine and Biotechnology002010
Voelker Cet al.Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)Glycobiology128473-4832002
Rosentreter A,et al.Juvenile glaucoma in propionic acidemiaOphthalmologe002012
Pena L,Burton BKSurvey of health status and complications among propionic acidemia patientsAm J Med GEnet15871641-462012
Shchelochkov OA,Carrillo N, Venditti CPropionic AcidemiaGeneReviews-« Internet002016
Jessen CL,et al.Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.Acta Paediatr10111519-5252012