TY - JOUR
T1 - Maturity onset diabetes of the young - Review
AU - Gat-Yablonski, Galia
AU - Shalitin, Shlomit
AU - Phillip, Moshe
PY - 2006/8
Y1 - 2006/8
N2 - Maturity onset diabetes of the young (MODY) is characterized by a primary defect in insulin secretion and hyperglycemia, nonketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2-5% of all cases of non-type 1 diabetes. The diagnosis may be made by careful clinical evaluation, but exact subtyping is possible only by genetic analysis. Several genetic factors have been identified as causative agents in MODV, each leading to a different type of the disease. These include the enzyme glucokinase, which causes MODY2, and the transcription factors HNF-4α, TCF1, IPF-1, TCF2, and NeuroD1, which cause MODY1, 3, 4, 5, and 6, respectively. The genetic findings have important clinical implications, allowing for proper genetic counseling, early diagnosis, and better care of patients.
AB - Maturity onset diabetes of the young (MODY) is characterized by a primary defect in insulin secretion and hyperglycemia, nonketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2-5% of all cases of non-type 1 diabetes. The diagnosis may be made by careful clinical evaluation, but exact subtyping is possible only by genetic analysis. Several genetic factors have been identified as causative agents in MODV, each leading to a different type of the disease. These include the enzyme glucokinase, which causes MODY2, and the transcription factors HNF-4α, TCF1, IPF-1, TCF2, and NeuroD1, which cause MODY1, 3, 4, 5, and 6, respectively. The genetic findings have important clinical implications, allowing for proper genetic counseling, early diagnosis, and better care of patients.
KW - CEL
KW - Glucokinase
KW - HNF1alpha
KW - HNF4alpha
KW - IPF1
KW - MODY
KW - NeuroD1
KW - TCF1
KW - TCF2
UR - http://www.scopus.com/inward/record.url?scp=33750983339&partnerID=8YFLogxK
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C2 - 17551475
AN - SCOPUS:33750983339
SN - 1565-4753
VL - 3
SP - 514
EP - 520
JO - Pediatric Endocrinology Reviews
JF - Pediatric Endocrinology Reviews
IS - SUPPL. 3
ER -