Visit Metagene.de!
Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
MODY, TYPE 1
125850
OMIM = Online Medalian Inheritance of Men
552
20q13.12
rare (1:400)
autosomal dominant
mutation in the HNF4A gene
symptoms
glucosuria
hyperglycemia
ketosis, ketoacidosis
onset, adolescent
onset, childhood
polydipsia (increased drinking)
polyuria
laboratory finding
pH7.007.407.357.45no unitblood
Insulin 3.0023.00decreasedplasma
Glucose 3.305.50increasedserum
reducing substances, urine (Clinitest)0.000.00 +urineno data
Glucose0.000.00 increasedurineno data
Ketone bodies0.000.00 +/++/+++urineno data
Glucose tolerance, impaired 3.305.50serum
Literature
Voelker Cet al.Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)Glycobiology128473-4832002
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