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1 - 10 of 22 results found for GLUD1.

  1. Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and...

  2. Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo...

    Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme,

  3. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and...

    Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive

  4. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in

    BACKGROUND: Activating mutations in the GLUD1 gene (which

  5. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

    BACKGROUND: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. AIM: To characterise the clinical and molecular

  6. Molecular mechanisms of congenital hyperinsulinism

    Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic b-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the

  7. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia

    Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic beta-cells and is a major cause of hypoglycemic brain injury and mental retardation. Congenital HH is caused by mutations in genes involved in

  8. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function...

    BACKGROUND: Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). HADH encodes short chain 3-hydroxacyl-CoA dehydrogenase, an enzyme that catalyses the penultimate reaction

  9. Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic...

    Background: Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A,

  10. Genetics and pathophysiology of hyperinsulinism in infancy

    Hyperinsulinism in infancy (HI) is a condition of neonates and early childhood. For many years the pathophysiology of this potentially lethal disorder was unknown. Advances in the genetics, histopathology and molecular physiology of this disease

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