Entry |
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Name |
Familial hyperinsulinemic hypoglycemia |
Supergrp |
Secondary hyperammonemia [DS: H01400] |
Description |
Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects in the regulation of insulin secretion. Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and INSR. Mutations of these loci have significant differences in phenotype and inheritance pattern. The most common genes associated with hyperinsulinism, involve the ABCC8 and KCNJ11 genes that encode the two subunits of the beta-cell ATP-dependent potassium channel. Recessive mutations of these genes cause a severe form of neonatal hypoglycemia that frequently requires near-total pancreatectomy. Diazoxide, a drug that acts as an agonist of the ATP-dependent potassium channel to suppress insulin secretion, is effective in defects associated with mutations of GLUD1 and HADHSC. Diazoxide is often ineffective in mutations of the ATP- dependent potassium channel and may not adequately control hypoglycemia in GCK or SLC16A1 mutations.
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Category |
Inherited metabolic disease
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Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Other congenital disorders of metabolism
H01267 Familial hyperinsulinemic hypoglycemia
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Other disorders of glucose regulation or pancreatic internal secretion
5A45 Persistent hyperinsulinemic hypoglycaemia of infancy
H01267 Familial hyperinsulinemic hypoglycemia
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Pathway |
hsa00471 | D-Glutamine and D-glutamate metabolism |
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Gene |
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Drug |
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Comment |
Leucine-induced hypoglycemia (LIH)
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Other DBs |
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Reference |
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Authors |
Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA |
Title |
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. |
Journal |
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Reference |
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Authors |
Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC |
Title |
Familial hyperinsulinism caused by an activating glucokinase mutation. |
Journal |
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Reference |
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Authors |
Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE |
Title |
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. |
Journal |
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Reference |
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Authors |
Hojlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H |
Title |
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. |
Journal |
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Reference |
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Authors |
Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M |
Title |
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. |
Journal |
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Reference |
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Authors |
Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipila I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J |
Title |
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. |
Journal |
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Reference |
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Authors |
Lheureux PE, Zahir S, Penaloza A, Gris M |
Title |
Bench-to-bedside review: Antidotal treatment of sulfonylurea-induced hypoglycaemia with octreotide. |
Journal |
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Reference |
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Authors |
Palladino AA, Stanley CA |
Title |
Nesidioblastosis no longer! It's all about genetics. |
Journal |
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Reference |
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Authors |
Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA |
Title |
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. |
Journal |
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LinkDB |
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