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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
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
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
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
Martijn Kranendijk,et al.Progress in understanding 2-hydroxyglutaric aciduriasJ Inherit Metab Dis354571-5872012