What is MODY (maturity onset diabetes of the young)?

MODY is a diabetes form which affects young persons and where the gene alteration is
inherited systematically in families from one parent to 50 % of the children (autosomal
dominant inheritance). There are 6 known genes, in which gene alterations cause this
disease. Reports indicate that tablet treatment with sulfonylurea could be advantageous in
MODY. A precise diagnosis will also predict disease risk among relatives.

Who should be tested?

Patients should be tested in a family where diabetes affects relatives in at least two
generations, where at least one family member has contracted diabetes before 25 years of
age and where there is reduced insulin secretion (treated with insulin, oral hyperglycemic
agents or diet).

What is permanent neonatal diabetes mellitus (PNDM)?

PNDM is a novel type of permanent insulin dependent diabetes mellitus in children,
usually diagnosed before 6 month of age (PNDM3). The gene alteration can be found in
three different genes (PNDM1-3). Some patients have been successfully treated with oral
sulphonylurea tablets despite being apparently insulin dependent. Most probably, only
quite a few patients is amenable to this treatment, but for these patients, this treatment is
of great importance. The patients seem to have low birth weight (less than 3000 g) and
low insulin requirement (less than 0.5 units per kg per day).

Who should be tested?

Patients with diabetes diagnosed before one year of age and not having type 1 diabetes
antibodies.

What is the MODY registry?

In Bergen, Norway, clinical data and blood samples are stored from more than 150
families from Norway and other countries. Under the lead of professor Pål Njølstad the
MODY group use this data in diabetes gene research and has for instance recently
participated in the characterization of the subgroup of PNDM called PNDM2 and
PNDM3 and MODY 2,3, 5.

Who performs diagnostics on MODY and PNDM?

Doctors who suspect MODY or PNDM in their patients can download forms and send the
samples to Children`s Clinic, Haukeland Hospital, Bergen, Norway. We need at least 4
mL of EDTA-blood.

Diagnostic form (pdf file)
Consent form adults (pdf file)
Consent form healthy family members (pdf file)

Download Adobe Reader

 

Please, remember to enclose also the consent form.

For more information, please contact:

Professor Pal R. Njolstad, MD, PhD
Children`s Clinic, Haukeland Hospital, Bergen, Norway

pal.njolstad@pedi.uib.no