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GDH-HI (hyperinsulinism hyperammonemia syndrome; HI/HA syndrome) caused by GLUD1 -activating mutations is the second most common cause of congenital hyperinsulinism (CHI MIM256450), which is a genetic and phenotypic heterogeneous group of disorders associated with dysregulated insulin secretion [1].

Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients

Until recently mutations in only 12 different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A, HK1, PGM1 and PMM2) that lead to dysregulated secretion of insulin had been described (6,13,14,15,16,17,18).

Congenital Hyperinsulinism: Diagnosis and Treatment Update

Mutations in the glucokinase (GCK), glutamate dehydrogenase (GLUD1), insulin receptor (INSR), hepatocyte nuclear factor 4a (HNF4A), and monocarboxylate transporter 1 (SLC16A1) genes have less commonly been reported to cause CHI and similar syndromes featuring hyperinsulinemic hypoglycemia [4-8].

Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years

Lawrence, "Catalogue of alleles for the complex gene loci GluA1, GluB1, GluD1, which code for the highmolecular-weight subunits of glutenin in hexaploid wheat," Cereal Research Communications, vol.

Marker-assisted selection for recognizing wheat mutant genotypes carrying HMW glutenin alleles related to baking quality

[2] Human genes: ABCC8, ATP-binding cassette subfamily C, member 8; KCNJ11, potassium inwardly rectifying channel, subfamily J, member 11; GCK, glucokinase; GLUD1, glutamate dehydrogenase 1; HADH, hydroxyacyl-Coenzyme A dehydrogenase; SLC16A1, solute carrier family 16, member 1 (monocarboxylic acid transporter 1).

Hyperinsulinism in infancy and childhood: when an insulin level is not always enough

1RL.1DL.1RL) was combined with a translocation of the GluD1 locus to chromosome 1A of triticale, in a germplasm UCRTCL3-2001.

Registration of three germplasms of hexaploid triticale with introgressions of wheat storage protein loci from chromosome 1D of bread wheat

Excessive ROS production mediated by the necrosome occurs through the following mechanisms: (a) RIP3 can allosterically activate glutamate-ammonia ligase or glutamine synthetase (GLUL) and glutamate dehydrogenase (GLUD1) enzymes.

Pancreatic Beta Cell Death: Novel Potential Mechanisms in Diabetes Therapy

Mutations in 11 genes, including ABCC8, KCNJ11, GLUD1, GCK, HADH, UCP2, SLC16A1 (MCT1), HNF4A, HNF1A (6), HK1 (7), and PGM1 (8) are known to cause CHI.

Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years

Persistent CHI can be caused by mutations in nine genes regulating the insulin secretion from the ([beta]-cells (ABCC8, KCNJ11, GLUD1, HADH, GCK, HNF4A, HNF1A, SLC16A1, and UCP2 genes) (6,7).

Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey

The former are attributed to adenosine triphosphate (KATP)-sensitive potassium channel genes (ABCC8, KCNJ11) and metabolopathies regulate different pathways (GLUD1, GCK, HNF4A, HNF1A, SLC16A1, UCP2, HADH).

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus