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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (MODY1)
MODY, TYPE 1
125850
OMIM = Online Medalian Inheritance of Men
552
20q13.12
rare (1:400)
autosomal dominant
mutation in the HNF4A gene
symptoms
diabetes mellitus
glucosuria
hyperglycemia
ketosis, ketoacidosis
onset, adolescent
onset, childhood
polydipsia (increased drinking)
polyuria
laboratory finding
pH7.007.407.357.45no unitblood
Insulin 3.0023.00decreasedplasma
D-Glucose5.0010.003.305.50mmol/lserum
reducing substances, urine (Clinitest)0.000.00 +urineno data
D-Glucose800.001800.00 mmol/mol creatinineurine
Ketone bodies0.000.00 +/++/+++urine
Glucose tolerance, impaired 2.605.50serum
Literature
Voelker Cet al.Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)Glycobiology128473-4832002
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
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991