The Molecular Genetics and Pathophysiology of Congenital Hyperinsulinism Caused by Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

2012 ◽  
pp. 137-145 ◽  
Author(s):  
Anders Molven ◽  
Geir Helgeland ◽  
Tone Sandal ◽  
Pål R. Njølstad
Keyword(s):  
Molecular Genetics ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Congenital Hyperinsulinism ◽  
Hydroxyacyl Coa Dehydrogenase

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening

2012 ◽  
Vol 106 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Laura Vilarinho ◽  
Jorge Sales Marques ◽  
Hugo Rocha ◽  
Altina Ramos ◽  
Lurdes Lopes ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Hydroxyacyl Coa Dehydrogenase

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

2011 ◽  
Vol 34 (3) ◽  
pp. 835-842 ◽  
Author(s):  
Esmeralda Martins ◽  
M. Luis Cardoso ◽  
Esmeralda Rodrigues ◽  
Clara Barbot ◽  
Altina Ramos ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Clinical Relevance ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Hydroxyacyl Coa Dehydrogenase

scholarly journals Mechanism of Hyperinsulinism in Short-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Involves Activation of Glutamate Dehydrogenase

2010 ◽  
Vol 285 (41) ◽  
pp. 31806-31818 ◽  
Author(s):  
Changhong Li ◽  
Pan Chen ◽  
Andrew Palladino ◽  
Srinivas Narayan ◽  
Laurie K. Russell ◽  
...  
Keyword(s):  
Glutamate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Hydroxyacyl Coa Dehydrogenase

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose–fatty acid cycle?

2003 ◽  
Vol 31 (6) ◽  
pp. 1137-1139 ◽  
Author(s):  
S. Eaton ◽  
I. Chatziandreou ◽  
S. Krywawych ◽  
S. Pen ◽  
P.T. Clayton ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Acid Oxidation ◽  
Β Cells ◽  
Molecular Defects ◽  
Glucose Fatty Acid Cycle ◽  
Hydroxyacyl Coa Dehydrogenase

Hyperinsulinism of infancy is caused by inappropriate insulin secretion in pancreatic β-cells, even when blood glucose is low. Several molecular defects are known to cause hyperinsulinism of infancy, such as KATP channelopathies and regulatory defects of glucokinase and glutamate dehydrogenase. Although defects of fatty acid oxidation have not previously been known to cause hyperinsulinism, patients with deficiency in SCHAD (short-chain 3-hydroxyacyl-CoA dehydrogenase; an enzyme of mitochondrial β-oxidation) have hyperinsulinism. A novel link between fatty acid oxidation and insulin secretion may explain hyperinsulinism in these patients.

scholarly journals Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion

2001 ◽  
Vol 108 (3) ◽  
pp. 457-465 ◽  
Author(s):  
Peter T. Clayton ◽  
Simon Eaton ◽  
Albert Aynsley-Green ◽  
Mark Edginton ◽  
Khalid Hussain ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Hydroxyacyl Coa Dehydrogenase

Using CRISPR/Cas9gene editing to study the molecular genetics of congenital hyperinsulinism

2018 ◽  
Author(s):  
Preetha Purushothaman ◽  
Ahmad Aldossary ◽  
Ileana Guerrini ◽  
Stephen Hart ◽  
Khalid Hussain
Keyword(s):  
Molecular Genetics ◽  
Congenital Hyperinsulinism

scholarly journals First case report of short-chain acyl-CoA dehydrogenase deficiency in China

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P181
Author(s):  
MinYan Jiang ◽  
Li Liu ◽  
MinZhi Peng ◽  
CuiLi Liang ◽  
HuiYing Sheng ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
First Case ◽  
Chain Acyl
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