Visit Metagene.de!
Summary
FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES
INSULIN INS PROINSULIN HYPERPROINSULINEMIA
176730
OMIM = Online Medalian Inheritance of Men
11p15.5

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
1-5/100000 autosomal dominant syndrome of mild diabetes or glucose intolerance due to an altered defective insuline also observed in 1 case of MODY
symptoms
hyperinsulinism
laboratory finding
Insulin30.00440.003.0023.00mU/lplasma
Glucose 3.305.50increasedserum
C-peptide1.005.000.100.90ng/mlplasma
Glucose tolerance, impaired serum
Literature
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994