Hyperinsulinism
... refers to an above normal level of insulin in the blood of a person or animal. Normal insulin secretion and ... Hyperinsulinism can be associated with several types of medical problems, which can be roughly divided into two broad and ... Hyperinsulinism due to reduced insulin sensitivity is usually asymptomatic. In contrast, hyperinsulinemic hypoglycemia can ...
Congenital hyperinsulinism
Hyperinsulinism or congenital hyperinsulinism can be a genetic or acquired condition. Acquired HI may be secondary to factors ... "Children's Hyperinsulinism Charity". www.hyperinsulinism.co.uk. Retrieved 2023-08-22. "HI Global Registry". www. ... Hyperinsulinism Genes. Information on the genetic mechanisms of CHI. Congenital Hyperinsulinism International. Nonprofit ... "Congenital Hyperinsulinism Center". The Children's Hospital of Philadelphia. 2014-05-05. Retrieved 2023-08-22. "Hyperinsulinism ...
Hyperinsulinism-hyperammonemia syndrome
Hyperinsulinism-hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder that results in the excess production of ... "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...
Hyperinsulinemia
Ferry, R.J. (2010). Hyperinsulinism "Medscape". "Hyperinsulinemia means that the amount of insulin in the blood is higher than ... It can also occur in congenital hyperinsulinism, including nesidioblastosis. Hyperinsulinemia is associated with hypertension, ... Demirbilek, Hüseyin; Hussain, Khalid (2017-12-30). "Congenital Hyperinsulinism: Diagnosis and Treatment Update". Journal of ... "Congenital hyperinsulinism: current trends in diagnosis and therapy". Orphanet Journal of Rare Diseases. 6: 63. doi:10.1186/ ...
Glucokinase
This creates hypoglycemia of varying patterns, including transient or persistent congenital hyperinsulinism, or fasting or ... Glaser B (2013-01-24). "Familial Hyperinsulinism". GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301549. ...
Seale Harris
Conclusions 1. Hyperinsulinism is a condition, perhaps a disease entity, with definite symptoms; i.e. those described as being ... His research on hyperinsulinism and its control brought international recognition to Harris, including the Distinguished ... 1924: "Hyperinsulinism and Dysinsulinism", Journal of the American Medical Association 83(10): 729-33. 1928: The Sugar Fed ... Harris, Seale (1924). "Hyperinsulinism and disinsulinism". Journal of the American Medical Association. 83 (10): 729-33. doi: ...
List of OMIM disorder codes
SLC16A1 Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1 Hyperkalemic periodic paralysis, type 2; 613345; SCN4A ...
Idiopathic hypoglycemia
Hyperinsulinism Perry, Julian C.; Bourne, Blanche; Lester Henry, W. (January 1957). "Idiopathic Hypoglycemia in Childhood: ...
Sulfonylurea receptor
Fournet JC, Junien C (2004). "Genetics of congenital hyperinsulinism". Endocrine Pathology. 15 (3): 233-40. doi:10.1385/EP:15:3 ... SUR2A and SUR2B The SUR1 protein is coded by the ABCC8 gene and is associated with congenital hyperinsulinism and ...
Whipple's triad
The same signs may be caused by hyperinsulinism not caused by insulinoma. The criteria date back to the 1930s, when a few ... Hyperinsulinism Hypoglycemia Causes of hypoglycemia Melmed, Shlomo (2016). Williams textbook of endocrinology (13 ed.). ... Whipple, Allen O (1938). "The surgical therapy of hyperinsulinism". International Journal of Surgery. 3: 237-276 - via Scopus ...
ABCC8
June 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nature Genetics. 7 ... Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Human ... November 1996). "Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews". ... July 1998). "Genetic heterogeneity in familial hyperinsulinism". Human Molecular Genetics. 7 (7): 1119-1128. doi:10.1093/hmg/ ...
HK1
Rosenfeld E, Ganguly A, De Leon DD (December 2019). "Congenital hyperinsulinism disorders: Genetic and clinical characteristics ... Changes in hexokinase 1 have also been identified to cause both mild and severe forms of congenital hyperinsulinism. Due to the ... "Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease". Frontiers ...
Octreotide
McMahon AW, Wharton GT, Thornton P, De Leon DD (January 2017). "Octreotide use and safety in infants with hyperinsulinism". ... Octreotide is also used in the treatment of refractory hypoglycemia or congenital hyperinsulinism in neonates and sulphonylurea ...
GLUDP5
1998). "Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene". N. Engl. ... 2001). "Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate- ... 2000). "Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome ... "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. Mutat. 13 (5): 351-61. doi:10.1002/(SICI)1098- ...
Glutamate dehydrogenase 1
Hyperammonemia/hyperinsulinism (HA/HI) is associated with mild-to-moderate hyperammonemia and with relatively mild, late-onset ... Familial hyperinsulinism, linked to mutations in GLUD1, is characterized by hypoglycemia that ranges from severe neonatal-onset ... GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism Glutamate+dehydrogenase at the U.S. National Library of Medicine ... Individuals with autosomal recessive familial hyperinsulinism, caused by mutations in either ABCC8 or KCNJ11 (FHI-KATP), tend ...
Ketone
... due to causes other than hyperinsulinism; in various inborn errors of metabolism, and intentionally induced via a ketogenic ...
Monocarboxylate transporter 1
It causes hyperinsulinemic hypoglycemia, where hyperinsulinism is exercise-induced. Monocarboxylate transporter 1 deficiency ( ... in mouse pancreatic β-cells leads to relative hyperinsulinism during exercise". Diabetes. 61 (7): 1719-25. doi:10.2337/db11- ... Overexpression of MCT1 in pancreatic beta cells leads to hyperinsulinism during exercise. Hyperinsulinemic hypoglycemia, ...
Al Aynsley-Green
September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies ... "Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin ... "Hyperinsulinism in Infancy: From Basic Science to Clinical Disease". Physiological Reviews. 84 (1): 239-275. doi:10.1152/ ... "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C ...
Transgenerational trauma
GDM results in maternal hyperglycemia, fetal hyperinsulinism, and fetal overnutrition. DNA methylation can act as the mechanism ...
Glossary of diabetes
Hyperinsulinism Too high a level of insulin in the blood. This often involves a condition in which the body produces too much ...
Kir6.2
The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism. It is ... GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus ... Mutations in this gene are a cause of congenital hyperinsulinism (CHI), an autosomal recessive disorder characterized by ... Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Human ...
Neonatal hypoglycemia
Congenital hyperinsulinism Hyperinsulinemic hypoglycemia Wong's nursing care of infants and children. Hockenberry, Marilyn J ...
Daniel Ricquier
Ricquier has demonstrated that mutations in the UCP2 protein induce congenital hyperinsulinism in children at birth. He also ... "Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion". PLOS ONE. 3 (12): e3850. ...
Intrauterine growth restriction
Cramp
Due to Diabetogenic Hyperinsulinism: Observations on 131 Patients". Journal of the American Geriatrics Society. 13 (7): 602-38 ...
Hyperinsulinemic hypoglycemia
Hyperinsulinism due to diffuse overactivity of beta cells, such as in many of the forms of congenital hyperinsulinism, and more ... Hypoglycemia due to endogenous insulin Congenital hyperinsulinism Transient neonatal hyperinsulinism (mechanism not known) ... When congenital hyperinsulinism is due to focal defects of the insulin-secretion mechanism, surgical removal of that part of ... Detectable amounts of insulin are abnormal and indicate that hyperinsulinism is likely to be the cause. Other aspects of the ...
Pancreatic cancer
The first case of hyperinsulinism due to a tumor of this type was reported in 1927. Recognition of a non-insulin-secreting type ...
Insulinoma
In the 1920s, after the discovery of insulin and its use in the treatment of diabetics, hyperinsulinism was suspected to be a ... A pioneering description of hyperinsulinism as a cause of hypoglycemia was published by Seale Harris in 1924. The first report ...
Nesidioblastosis
Most congenital hyperinsulinism is now known to be caused by different mechanisms than excessive proliferation of beta cells in ... Clancy T, Moore F, Zinner M (2006). "Post-gastric bypass hyperinsulinism with nesidioblastosis: subtotal or total ... Congenital hyperinsulinism Neonatal hypoglycemia Raffel A, Krausch MM, Anlauf M, Wieben D, Braunstein S, Klöppel G, Röher H, ... the term has been revived to describe a form of acquired hyperinsulinism with beta cell hyperplasia found in adults, especially ...
USH1C
September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies ... September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies ...