Hyperinsulinism in infancy--genetic aspects.

Hyperinsulinism in infancy--genetic aspects. Research Abstract Details 

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Hyperinsulinism in infancy--genetic aspects. Abstract Text:

Feyza Darendeliler,Firdevs Bas,

Hyperinsulinism in infancy (HI) is a heterogeneous disorder with respect to clinical presentation, genetics, histology and response to therapy. Advances in the understanding of the molecular basis of the disease have given the pediatric endocrinologists a better insight into the diagnosis and therapeutic choice. In 50-60% of cases, a genetic etiology is unraveled. Mutations in the genes encoding SUR1 (ABCC8) and KIR6.2 (KCNJ11) are the most frequent genetic causes of HI followed by mutations in the GLUD1 gene which encodes glutamate dehydrogenase (GDH) enzyme. The patients with GLUD1 mutations also have hyperammonemia (HA). Activating dominant mutations in glucokinase (GCK) gene which result in HI are rare. In GLUD1 and GCK mutations the disease is usually mild, has a late onset and is responsive to diazoxide. However, studies so far have failed to show a clear genotype phenotype relation in KATP channel mutations. In conclusion the genetic analysis of HI has provided valuable information to the clinicians about the beta cell.

Hyperinsulinism in infancy--genetic aspects. Publishing Authors By Initials

F Darendeliler,F Bas,

For similar proteins: receptors, drug research abstracts see: proteins: receptors, drug research

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Hyperinsulinism in infancy--genetic aspects. Journal Published:

PUBLICATION TYPE: Review

Journal: Pediatric endocrinology reviews : PER

VOLUME: 3 Suppl 3

Page Numbers: 521-6

Journal Abbreviation:

ISSN: 1565-4753

DAY: 9

MONTH: Aug

YEAR: 2006

Hyperinsulinism in infancy--genetic aspects. Information

Number of References: 50

LANGUAGE: eng

NlmUniqueID: 101202124

Hyperinsulinism in infancy--genetic aspects. Keywords Mesh Terms:

KEYWORDS: Receptors, Drug

MESH TERMS: genetics

Chemical & Substance for Abstract: Hyperinsulinism in infancy--genetic aspects. Information

Substance Name: Glutamate Dehydrogenase

Registry Number: EC 1.4.1.2

Grant and Affiliation Information for Hyperinsulinism in infancy--genetic aspects.

AFFILIATION: Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul, Turkey. feyzad@istanbul.edu.tr

Country: Israel

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Pediatr Endocrinol Rev

REFSOURCE: Pediatr Endocrinol Rev. 2007 Sep;5(1):47

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