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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 (MODY4)
MODY, TYPE 4
606392
OMIM = Online Medalian Inheritance of Men
552
13q12.2
rare
mutation in the PDX1 gene
symptoms
diabetes mellitus
onset, adulthood
polydipsia (increased drinking)
polyuria
laboratory finding
D-Glucose increasedblood
Literature
Miinalainen IJ,et al.Mitochondrial 2,4-dienoyl-CoA reductase deficiency in mice results in severe hypoglycemia with stress intolerance and unimpaired ketogenesisPLoS Genet572009
Voelker Cet al.Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)Glycobiology128473-4832002
Martijn Kranendijk,et al.Progress in understanding 2-hydroxyglutaric aciduriasJ Inherit Metab Dis354571-5872012
Zhang L,Wang H, Hong TDiagnosis and treatment of 17 alpha-hydroxylase deficiency: a case report and literature reviewBeijing Da Xue Xue Bao402221-2222008
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
Martijn Kranendijk,et al.Progress in understanding 2-hydroxyglutaric aciduriasJ Inherit Metab Dis354571-5872012