GENETIC SPECTRUM OF NEONATAL DIABETES
Kocova M
*Corresponding Author: Mirjana Kocova, M.D., Ph.D., Medical Faculty, University Cyril and
Methodius, 50 Divizija No. 6, 1000, Skopje, Republic of Macedonia. Tel. +389-7024-2694. Fax:
+389-2317-6167. E-mail: mirjanakocova@yahoo.com
page: 5
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Abstract
Neonatal diabetes (ND) appears during the first
months of life and is caused by a single gene mutation.
It is heterogenous and very different compared to other
forms of multi-factorial or polygenic diabetes. Clinically,
this form is extremely severe, however, early genetic diagnosis
is pivotal for successful therapy. A large palette of
genes is demonstrated to be a cause of ND, however, the
mechanisms of permanent hyperglycemia are different.
This review will give an overview of more frequent genetic
mutations causing ND, including the function of the mutated
genes and the specific therapy for certain sub-forms.
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