Congenital hyperinsulinism. Medical search

A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).

A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.

ATP-BINDING CASSETTE PROTEINS that are highly conserved and widely expressed in nature. They form an integral part of the ATP-sensitive potassium channel complex which has two intracellular nucleotide folds that bind to sulfonylureas and their analogs.

Proteins that bind specific drugs with high affinity and trigger intracellular changes influencing the behavior of cells. Drug receptors are generally thought to be receptors for some endogenous substance not otherwise specified.

Potassium channels where the flow of K+ ions into the cell is greater than the outward flow.

A benzothiadiazine derivative that is a peripheral vasodilator used for hypertensive emergencies. It lacks diuretic effect, apparently because it lacks a sulfonamide group.

Surgical removal of the pancreas. (Dorland, 28th ed)

A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein.

Heteromultimers of Kir6 channels (the pore portion) and sulfonylurea receptor (the regulatory portion) which affect function of the HEART; PANCREATIC BETA CELLS; and KIDNEY COLLECTING DUCTS. KATP channel blockers include GLIBENCLAMIDE and mitiglinide whereas openers include CROMAKALIM and minoxidil sulfate.

A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.

An enzyme that catalyzes the conversion of L-glutamate and water to 2-oxoglutarate and NH3 in the presence of NAD+. (From Enzyme Nomenclature, 1992) EC 1.4.1.2.

A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).

Cell membrane glycoproteins that are selectively permeable to potassium ions. At least eight major groups of K channels exist and they are made up of dozens of different subunits.

A type of pancreatic cell representing about 50-80% of the islet cells. Beta cells secrete INSULIN.

An infant during the first month after birth.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

An individual having different alleles at one or more loci regarding a specific character.

Methods and procedures for the diagnosis of diseases or dysfunction of the endocrine glands or demonstration of their physiological processes.

Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.

Hyperinsulinism in infancy: from basic science to clinical disease. (1/62)

Ion channelopathies have now been described in many well-characterized cell types including neurons, myocytes, epithelial cells, and endocrine cells. However, in only a few cases has the relationship between altered ion channel function, cell biology, and clinical disease been defined. Hyperinsulinism in infancy (HI) is a rare, potentially lethal condition of the newborn and early childhood. The causes of HI are varied and numerous, but in almost all cases they share a common target protein, the ATP-sensitive K+ channel. From gene defects in ion channel subunits to defects in beta-cell metabolism and anaplerosis, this review describes the relationship between pathogenesis and clinical medicine. Until recently, HI was generally considered an orphan disease, but as parallel defects in ion channels, enzymes, and metabolic pathways also give rise to diabetes and impaired insulin release, the HI paradigm has wider implications for more common disorders of the endocrine pancreas and the molecular physiology of ion transport. (+info)

Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. (2/62)

Hyperinsulinism (HI) of infancy is a neuroendocrine disease secondary to either focal adenomatous hyperplasia or a diffuse abnormality of insulin secretion of the pancreas. HI with focal lesions can revert by selective surgical resection in contrast to the diffuse form, which requires subtotal pancreatectomy when resistant to medical treatment. Neuroendocrine diseases are a heterogeneous group of entities with the ability to take up amine precursors and to convert them into biogenic amines. Therefore, the aim of this study was (a) to evaluate the use of PET with 18F-fluoro-L-dihydroxyphenylalanine (18F-fluoro-L-DOPA) and (b) to distinguish between focal and diffuse HI. METHODS: Fifteen patients (11 boys, 4 girls) with neonatal HI were enrolled in this study. All patients fasted for at least 6 h before the PET examination and their medication was discontinued for at least 72 h. The examination was performed under light sedation (pentobarbital associated with or without chloral). The dynamic acquisition started 45-65 min after the injection of 18F-fluoro-L-DOPA (4.0 MBq/kg weight). Four or 6 scans of 5 min each (2 or 3 steps according to the height of the patient) were acquired from the neck to the upper legs. RESULTS: An abnormal focal pancreatic uptake of 18F-fluoro-L-DOPA was observed in 5 patients, whereas a diffuse uptake of the radiotracer was observed in the pancreatic area of the other patients. All patients with focal radiotracer uptake and also 4 of 10 patients with pancreatic diffuse radiotracer accumulation, unresponsive to medical treatment, underwent surgery. The histopathologic results confirmed the PET findings--that is, focal versus diffuse HI. CONCLUSION: The results of this study suggest that 18F-fluoro-L-DOPA could be an accurate noninvasive technique to distinguish between focal and diffuse forms of HI. (+info)

Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants. (3/62)

The pancreatic ATP-sensitive potassium channels comprise two subunits: SUR1 and Kir6.2. Two SUR1 mutations, A116P and V187D, reduce channel activity causing persistent hyperinsulinemic hypoglycemia of infancy. We investigated whether these mutations cause temperature sensitive misfolding. We show that the processing defect of these mutants is temperature sensitive and these two mutations disrupt the association between SUR1 and Kir6.2 by causing misfolding in SUR1 at 37 degrees C but can be rescued at 18 degrees C. Extensive electrophysiological characterization of these mutants indicated that low temperature largely, if not completely, corrects the folding defect of these two SUR1 mutants observed at 37 degrees C. (+info)

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. (4/62)

The beta-cell ATP-sensitive potassium (KATP) channel controls insulin secretion by linking glucose metabolism to membrane excitability. Loss of KATP channel function due to mutations in ABCC8 or KCNJ11, genes that encode the sulfonylurea receptor 1 or the inward rectifier Kir6.2 subunit of the channel, is a major cause of congenital hyperinsulinism. Here, we report identification of a novel KCNJ11 mutation associated with the disease that renders a missense mutation, F55L, in the Kir6.2 protein. Mutant channels reconstituted in COS cells exhibited a wild-type-like surface expression level and normal sensitivity to ATP, MgADP, and diazoxide. However, the intrinsic open probability of the mutant channel was greatly reduced, by approximately 10-fold. This low open probability defect could be reversed by application of phosphatidylinositol 4,5-bisphosphates or oleoyl-CoA to the cytoplasmic face of the channel, indicating that reduced channel response to membrane phospholipids and/or long chain acyl-CoAs underlies the low intrinsic open probability in the mutant. Our findings reveal a novel molecular mechanism for loss of KATP channel function and congenital hyperinsulinism and support the importance of phospholipids and/or long chain acyl-CoAs in setting the physiological activity of beta-cell KATP channels. The F55L mutation is located in the slide helix of Kir6.2. Several permanent neonatal diabetes-associated mutations found in the same structure have the opposite effect of increasing intrinsic channel open probability. Our results also highlight the critical role of the Kir6.2 slide helix in determining the intrinsic open probability of KATP channels. (+info)

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (5/62)

Congenital hyperinsulinism is a rare pancreatic endocrine cell disorder that has been categorized histologically into diffuse and focal forms. In focal hyperinsulinism, the pancreas contains a focus of endocrine cell adenomatous hyperplasia, and the patients have been reported to possess paternally inherited mutations of the ABCC8 and KCNJ11 genes, which encode subunits of an ATP-sensitive potassium channel (K(ATP)). In addition, the hyperplastic endocrine cells show loss of maternal 11p15, where imprinted genes such as p57(kip2) reside. In order to evaluate whether all cases of focal hyperinsulinism are caused by this mechanism, 56 pancreatectomy specimens with focal hyperinsulinism were tested for the loss of maternal allele by two methods: immunohistochemistry for p57(kip2) (n=56) and microsatellite marker analysis (n=27). Additionally, 49 patients were analyzed for K(ATP) mutations. Out of 56 focal lesions, 48 demonstrated clear loss of p57(kip2) expression by immunohistochemistry. The other eight lesions similarly showed no nuclear labeling, but the available tissue was not ideal for definitive interpretation. Five of these eight patients had paternal K(ATP) mutations, of which four demonstrated loss of maternal 11p15 within the lesion by microsatellite marker analysis. All of the other three without a paternal K(ATP) mutation showed loss of maternal 11p15. K(ATP) mutation analysis identified 32/49 cases with paternal mutations. There were seven patients with nonmaternal mutations whose paternal DNA material was not available, and one patient with a mutation that was not present in either parent's DNA. These eight patients showed either loss of p57(kip2) expression or loss of maternal 11p15 region by microsatellite marker analysis, as did the remaining nine patients with no identifiable K(ATP) coding region mutations. The combined results from the immunohistochemical and molecular methods indicate that maternal 11p15 loss together with paternal K(ATP) mutation is the predominant causative mechanism of focal hyperinsulinism. (+info)

Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (6/62)

Congenital hyperinsulinism of infancy (CHI) is characterized by severe hypoglycemia due to dysregulated insulin secretion, associated with either focal or diffuse pathology of the endocrine pancreas. The focal condition is caused by a paternally inherited mutation in one of the genes encoding the subunits of the beta-cell ATP-sensitive potassium channel (SUR1/ABCC8 or Kir6.2/KCNJ11) and somatic loss of maternal 11p15 alleles within the affected area. Until now, preoperative diagnostics have relied on technically demanding and invasive catheterization techniques. We evaluated the utility of fluorine-18 l-3,4-dihydroxyphenylalanine ([(18)F]-DOPA) positron emission tomography (PET) to identify focal pancreatic lesions in 14 CHI patients, 11 of which carried mutations in the ABCC8 gene (age 1-42 months). To reduce bias in PET image interpretation, quantitative means for evaluation of pancreatic [(18)F]-DOPA uptake were established. Five patients had a visually apparent focal accumulation of [(18)F]-DOPA and standardized uptake value (SUV) >50% higher (mean 1.8-fold) than the maximum SUV of the unaffected part of the pancreas. When these patients were operated on, a focus of 4-5 x 5-8 mm matching with the PET scan was found, and all were normoglycemic after resection of the focus. The remaining nine patients had diffuse accumulation of [(18)F]-DOPA in the pancreas (SUV ratio <1.5). Diffuse histology was verified in four of these, and pancreatic catheterization was consistent with diffuse pathology in four cases. In conclusion, [(18)F]-DOPA PET is a promising noninvasive method for the identification and localization of the focal form of CHI. (+info)

Molecular mechanisms of neonatal hyperinsulinism. (7/62)

Congenital hyperinsulinism (CHI), characterized by profound hypoglycaemia related to inappropriate insulin secretion, may be associated histologically with either diffuse insulin hypersecretion or focal adenomatous hyperplasia, which share a similar clinical presentation, but result from different molecular mechanisms. Whereas diffuse CHI is of autosomal recessive, or less frequently of autosomal dominant, inheritance, focal CHI is sporadic. The most common mechanism underlying CHI is dysfunction of the pancreatic ATP-sensitive potassium channel (K(+)(ATP)). The two subunits of the K(+)(ATP) channel are encoded by the sulfonylurea receptor gene (SUR1 or ABCC8) and the inward-rectifying potassium channel gene (KIR6.2 or KCNJ11), both located in the 11p15.1 region. Germ-line, paternally inherited, mutations of the SUR1 or KIR6.2 genes, together with somatic maternal haplo-insufficiency for 11p15.5, were shown to result in focal CHI. Diffuse CHI results from germ-line mutations in the SUR1 or KIR6.2 genes, but also from mutations in several other genes, namely glutamate dehydrogenase (with associated hyperammonaemia), glucokinase, short-chain L-3-hydroxyacyl-CoA dehydrogenase, and insulin receptor gene. Hyperinsulinaemic hypoglycaemia may be observed in several overlapping syndromes, such as Beckwith-Wiedemann syndrome (BWS), Perlman syndrome, and, more rarely, Sotos syndrome. Mosaic genome-wide paternal isodisomy has recently been reported in patients with clinical signs of BWS and CHI. The primary causes of CHI are genetically heterogeneous and have not yet been completely unveiled. However, secondary causes of hyperinsulinism have to be considered such as fatty acid oxidation deficiency, congenital disorders of glycosylation and factitious hypoglycaemia secondary to Munchausen by proxy syndrome. (+info)

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. (8/62)

BACKGROUND: Macrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of pregnant women with diabetes and in congenital hyperinsulinaemia is mediated by increased foetal insulin secretion. We assessed the in utero and neonatal role of two key regulators of pancreatic insulin secretion by studying birthweight and the incidence of neonatal hypoglycaemia in patients with heterozygous mutations in the maturity-onset diabetes of the young (MODY) genes HNF4A (encoding HNF-4alpha) and HNF1A/TCF1 (encoding HNF-1alpha), and the effect of pancreatic deletion of Hnf4a on foetal and neonatal insulin secretion in mice. METHODS AND FINDINGS: We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutations, and 134 patients from families with HNF1A mutations. Birthweight was increased by a median of 790 g in HNF4A-mutation carriers compared to non-mutation family members (p < 0.001); 56% (30/54) of HNF4A-mutation carriers were macrosomic compared with 13% (7/54) of non-mutation family members (p < 0.001). Transient hypoglycaemia was reported in 8/54 infants with heterozygous HNF4A mutations, but was reported in none of 54 non-mutation carriers (p = 0.003). There was documented hyperinsulinaemia in three cases. Birthweight and prevalence of neonatal hypoglycaemia were not increased in HNF1A-mutation carriers. Mice with pancreatic beta-cell deletion of Hnf4a had hyperinsulinaemia in utero and hyperinsulinaemic hypoglycaemia at birth. CONCLUSIONS: HNF4A mutations are associated with a considerable increase in birthweight and macrosomia, and are a novel cause of neonatal hypoglycaemia. This study establishes a key role for HNF4A in determining foetal birthweight, and uncovers an unanticipated feature of the natural history of HNF4A-deficient diabetes, with hyperinsulinaemia at birth evolving to decreased insulin secretion and diabetes later in life. (+info)

Symptoms of CHI can include hypoglycemia (low blood sugar), seizures, poor feeding, and rapid breathing. If left untreated, the condition can lead to serious health problems, such as developmental delays, intellectual disability, and an increased risk of stroke or heart disease.

Treatment for CHI typically involves a combination of dietary changes, medications, and surgery. The goal of treatment is to manage hypoglycemia and prevent long-term complications. In some cases, a pancreatectomy (removal of the pancreas) may be necessary.

Early detection and intervention are critical for managing CHI and preventing long-term complications. Newborn screening for CHI is becoming increasingly common, allowing for earlier diagnosis and treatment. With appropriate management, many individuals with CHI can lead normal, healthy lives.

In hyperinsulinism, the body produces too much insulin, leading to a range of symptoms including:

1. Hypoglycemia (low blood sugar): Excessive insulin can cause blood sugar levels to drop too low, leading to hypoglycemic symptoms such as shakiness, dizziness, confusion, and rapid heartbeat.
2. Weight gain: Hyperinsulinism can lead to weight gain due to the body's inability to effectively use glucose for energy production.
3. Fatigue: Excessive insulin can cause fatigue, as the body's cells are not able to effectively use glucose for energy production.
4. Mood changes: Hyperinsulinism can lead to mood changes such as irritability, anxiety, and depression.
5. Polycystic ovary syndrome (PCOS): Women with PCOS are at a higher risk of developing hyperinsulinism due to insulin resistance.
6. Gestational diabetes: Hyperinsulinism can occur during pregnancy, leading to gestational diabetes.
7. Acanthosis nigricans: A condition characterized by dark, velvety patches on the skin, often found in the armpits, neck, and groin area.
8. Cancer: Hyperinsulinism has been linked to an increased risk of certain types of cancer, such as breast, colon, and pancreatic cancer.
9. Cardiovascular disease: Excessive insulin can increase the risk of cardiovascular disease, including high blood pressure, heart disease, and stroke.
10. Cognitive impairment: Hyperinsulinism has been linked to cognitive impairment and an increased risk of dementia.

There are several causes of hyperinsulinism, including:

1. Insulin-producing tumors: Tumors that produce excessive amounts of insulin can lead to hyperinsulinism.
2. Familial hyperinsulinism: A genetic disorder that affects the regulation of insulin secretion and action.
3. Pancreatic beta-cell dysfunction: Dysfunction in the pancreatic beta cells, which produce insulin, can lead to hyperinsulinism.
4. Medications: Certain medications such as steroids and certain psychiatric drugs can cause hyperinsulinism.
5. Pituitary tumors: Tumors in the pituitary gland can lead to excessive secretion of growth hormone, which can stimulate insulin production.
6. Maternal diabetes during pregnancy: Women with diabetes during pregnancy may experience hyperinsulinism due to increased insulin resistance and higher insulin levels.
7. Gestational diabetes: High blood sugar during pregnancy can lead to hyperinsulinism.
8. Polycystic ovary syndrome (PCOS): Women with PCOS may experience hyperinsulinism due to insulin resistance and high insulin levels.
9. Cushing's syndrome: An endocrine disorder caused by excessive cortisol production can lead to hyperinsulinism.
10. Other medical conditions: Certain medical conditions such as thyroid disorders, adrenal gland disorders, and pituitary gland disorders can also cause hyperinsulinism.

It's important to note that some individuals with hyperinsulinism may not experience any symptoms, while others may experience a range of symptoms, including:

1. Weight gain
2. Fatigue
3. Headaches
4. Numbness or tingling in the hands and feet
5. Memory loss and difficulty concentrating
6. Mood changes, such as anxiety and depression
7. Skin problems, such as acne and thinning skin
8. Increased risk of heart disease and stroke
9. Growth retardation in children
10. Increased risk of developing type 2 diabetes

If you suspect that you or your child may have hyperinsulinism, it's important to consult with a healthcare professional for proper diagnosis and treatment. A doctor may perform a physical examination, take a medical history, and order blood tests to determine if hyperinsulinism is present and what may be causing it. Treatment options for hyperinsulinism will depend on the underlying cause of the condition. In some cases, medications such as metformin or other anti-diabetic drugs may be prescribed to help regulate blood sugar levels and reduce insulin production. In other cases, surgery or lifestyle changes may be necessary. With proper diagnosis and treatment, it is possible to manage hyperinsulinism and prevent or manage related health complications.

In extreme cases, hypoglycemia can lead to seizures, loss of consciousness, and even coma. It is important to recognize the symptoms of hypoglycemia early on and seek medical attention if they persist or worsen over time. Treatment typically involves raising blood sugar levels through the consumption of quick-acting carbohydrates such as glucose tablets, fruit juice, or hard candy.

If left untreated, hypoglycemia can have serious consequences, including long-term damage to the brain, heart, and other organs. It is important for individuals with diabetes to monitor their blood sugar levels regularly and work with their healthcare provider to manage their condition effectively.

Causes of Hyperammonemia:

1. Liver disease or failure: The liver is responsible for filtering out ammonia, so if it is not functioning properly, ammonia levels can rise.
2. Urea cycle disorders: These are genetic conditions that affect the body's ability to break down protein and produce urea. As a result, ammonia can build up in the bloodstream.
3. Inborn errors of metabolism: Certain inherited disorders can lead to hyperammonemia by affecting the body's ability to process ammonia.
4. Sepsis: Severe infections can cause inflammation in the body, which can lead to hyperammonemia.
5. Kidney disease or failure: If the kidneys are not functioning properly, they may be unable to remove excess ammonia from the bloodstream, leading to hyperammonemia.

Symptoms of Hyperammonemia:

1. Lethargy and confusion
2. Seizures
3. Coma
4. Vomiting
5. Diarrhea
6. Decreased appetite
7. Weight loss
8. Fatigue
9. Headache
10. Nausea and vomiting

Diagnosis of Hyperammonemia:

1. Blood tests: Measurement of ammonia levels in the blood is the most common method used to diagnose hyperammonemia.
2. Urine tests: Measurement of urea levels in the urine can help determine if the body is able to produce and excrete urea normally.
3. Imaging tests: Imaging tests such as CT or MRI scans may be ordered to look for any underlying liver or kidney damage.
4. Genetic testing: If the cause of hyperammonemia is suspected to be a genetic disorder, genetic testing may be ordered to confirm the diagnosis.

Treatment of Hyperammonemia:

1. Dietary changes: A low-protein diet and avoiding high-aminogram foods can help reduce ammonia production in the body.
2. Medications: Medications such as sodium benzoate, sodium phenylbutyrate, and ribavirin may be used to reduce ammonia production or increase urea production.
3. Dialysis: In severe cases of hyperammonemia, dialysis may be necessary to remove excess ammonia from the blood.
4. Liver transplantation: In cases where the cause of hyperammonemia is liver disease, a liver transplant may be necessary.
5. Nutritional support: Providing adequate nutrition and hydration can help support the body's metabolic processes and prevent complications of hyperammonemia.

Complications of Hyperammonemia:

1. Brain damage: Prolonged elevated ammonia levels in the blood can cause brain damage, leading to cognitive impairment, seizures, and coma.
2. Respiratory failure: Severe hyperammonemia can lead to respiratory failure, which can be life-threatening.
3. Cardiac complications: Hyperammonemia can cause cardiac complications such as arrhythmias and heart failure.
4. Kidney damage: Prolonged elevated ammonia levels in the blood can cause kidney damage and failure.
5. Infections: People with hyperammonemia may be more susceptible to infections due to impaired immune function.

In conclusion, hyperammonemia is a serious condition that can have severe consequences if left untreated. It is essential to identify the underlying cause of hyperammonemia and provide appropriate treatment to prevent complications. Early detection and management of hyperammonemia can improve outcomes and reduce the risk of long-term sequelae.

... is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by ... "congenital hyperinsulinism". Genetics Home Reference. Retrieved 2016-10-07. Hussain, K. (August 2005). "Congenital ... The cause of congenital hyperinsulinism has been linked to anomalies in nine genes. The diffuse form of this condition is ... James, C.; Kapoor, R. R.; Ismail, D.; Hussain, K. (1 May 2009). "The genetic basis of congenital hyperinsulinism". Journal of ...

https://en.wikipedia.org/wiki/Congenital_hyperinsulinism

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 ...

https://en.wikipedia.org/wiki/Sulfonylurea_receptor

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/ ... "Congenital hyperinsulinism: current trends in diagnosis and therapy". Orphanet Journal of Rare Diseases. 6 (1): 63. doi:10.1186 ...

https://en.wikipedia.org/wiki/Hyperinsulinemia

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- ... 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- ...

https://en.wikipedia.org/wiki/GLUDP5

Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. ... Nov 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nat Genet. 7 (2): ... 1997). "Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews". Hum. Mol. ... 1999). "Genetic heterogeneity in familial hyperinsulinism". Hum. Mol. Genet. 7 (7): 1119-28. doi:10.1093/hmg/7.7.1119. PMID ...

https://en.wikipedia.org/wiki/ABCC8

Mazor-Aronovitch K, Landau H, Gillis D (Mar 2009). "Surgical versus non-surgical treatment of congenital hyperinsulinism". ... "Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests ... "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ... "Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism". European Journal of Endocrinology. ...

https://en.wikipedia.org/wiki/Glutamate_dehydrogenase_1

The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism. It is ... Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. ... GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus ... in diabetes mellitus and hyperinsulinism". Hum. Mutat. 27 (3): 220-31. doi:10.1002/humu.20292. PMID 16416420. S2CID 38053792. ...

https://en.wikipedia.org/wiki/Kir6.2

"Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ... Hyperinsulinism-hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder that results in the excess production of ...

https://en.wikipedia.org/wiki/Hyperinsulinism-hyperammonemia_syndrome

Congenital hyperinsulinism Hyperinsulinemic hypoglycemia Wong's nursing care of infants and children. Hockenberry, Marilyn J ...

https://en.wikipedia.org/wiki/Neonatal_hypoglycemia

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. ...

https://en.wikipedia.org/wiki/Daniel_Ricquier

... or congenital hyperinsulinism. Diazoxide acts as a positive allosteric modulator of the AMPA and kainate receptors, suggesting ...

https://en.wikipedia.org/wiki/Diazoxide

This creates hypoglycemia of varying patterns, including transient or persistent congenital hyperinsulinism, or fasting or ... Homozygosity for GCK alleles with reduced function can cause severe congenital insulin deficiency, resulting in persistent ... Glaser B (2013-01-24). "Familial Hyperinsulinism". GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301549. ...

https://en.wikipedia.org/wiki/Glucokinase

Most congenital hyperinsulinism is now known to be caused by different mechanisms than excessive proliferation of beta cells in ... Congenital hyperinsulinism Neonatal hypoglycemia Raffel A, Krausch MM, Anlauf M, Wieben D, Braunstein S, Klöppel G, Röher H, ... in most cases from the 1970s until the 1980s it was used as a synonym for what is now referred to as congenital hyperinsulinism ... Clancy T, Moore F, Zinner M (2006). "Post-gastric bypass hyperinsulinism with nesidioblastosis: subtotal or total ...

https://en.wikipedia.org/wiki/Nesidioblastosis

ALG6-CDG can cause congenital hyperinsulinism with hyperinsulinemic hypoglycemia in infancy. A biologically very important ... Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome GeneReviews/NIH/NCBI/UW entry on Congenital Disorders of ... A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare ... Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, ...

https://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation

A meter can occasionally be useful in the monitoring of severe types of hypoglycemia (e.g., congenital hyperinsulinism) to ...

https://en.wikipedia.org/wiki/Glucose_meter

... determined the physiological role of cardiac KATP channels and identified one type of congenital hyperinsulinism. Animal models ...

https://en.wikipedia.org/wiki/Colin_Nichols

Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism Congenital insensitivity to pain with anhidrosis (CIPA) ... congenital anomalies Rare disease (Articles with short description, Short description matches Wikidata, Congenital disorders). ... Congenital heart defects) Hemifacial microsomia Holoprosencephaly Huntington's disease Hirschsprung's disease, or congenital ... Congenital central hypoventilation syndrome Congenital diaphragmatic hernia (CDH) ...

https://en.wikipedia.org/wiki/List_of_congenital_disorders

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 ... In more severe cases of persistent congenital hyperinsulinism unresponsive to drugs, a near-total pancreatectomy may be needed ...

https://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia

... or congenital hyperinsulinism, increases blood glucose and decreases insulin secretion and glucagon accelerates breakdown of ...

https://en.wikipedia.org/wiki/Glucose-elevating_agent

... from which he sought to donate proceeds for research towards diseases such congenital hyperinsulinism. In December 2020, Jesé ...

https://en.wikipedia.org/wiki/Jesé

All of the congenital metabolic defects, congenital forms of hyperinsulinism, and congenital hypopituitarism are likely to have ... congenital hypopituitarism, or congenital hyperinsulinism.[citation needed] A list of common causes: Prolonged fasting ... Congenital hypopituitarism Congenital hyperinsulinism, several types, both transient and persistent Inborn errors of ... Hyperinsulinism due to several congenital disorders of insulin secretion Insulin injected for type 1 diabetes Hyperinsulinism- ...

https://en.wikipedia.org/wiki/List_of_causes_of_hypoglycemia

... congenital Hyperinsulinism, diffuse Hyperinsulinism, focal Hyperkalemia Hyperkalemic periodic paralysis Hyperkeratosis ... E Hyperinsulinism due to focal adenomatous hyperplasia Hyperinsulinism due to glucokinase deficiency Hyperinsulinism due to ... congenital Hillig syndrome Hing-Torack-Dowston syndrome Hinson-Pepys disease Hip dislocation Hip dysplasia Beukes type Hip ... congenital essential Hemeralopia, familial Hemi 3 syndrome Hemifacial atrophy agenesis of the caudate nucleus Hemifacial ...

https://en.wikipedia.org/wiki/List_of_diseases_(H)

... but the crucial role of the fetal hyperinsulinism and monitoring of motherly glucose was nevertheless stressed. Recent studies ... among other things the incidence of congenital malformations, supporting the Hypothesis, that even moderately increased blood ...

https://en.wikipedia.org/wiki/Prenatal_nutrition

Congenital hyperammonemia is usually due to genetic defects in one of the enzymes of the urea cycle, such as ornithine ... hyperinsulinism-hyperammonemia syndrome (glutamate dehydrogenase 1) Online Mendelian Inheritance in Man (OMIM): 238970 - ...

https://en.wikipedia.org/wiki/Hyperammonemia

May 2020). "Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction". Nucleic Acids Research ... 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 ...

https://en.wikipedia.org/wiki/USH1C

... hyperinsulinism MeSH C18.452.394.968.500 - insulin resistance MeSH C18.452.394.968.500.570 - metabolic syndrome x MeSH C18.452. ... congenital MeSH C18.452.648.925.500 - mineralocorticoid excess syndrome, apparent MeSH C18.452.648.925.750 - ichthyosis, x- ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)

Hyperinsulinism Too high a level of insulin in the blood. This often involves a condition in which the body produces too much ... Congenital defect problems or conditions that are present at birth. Congestive heart failure heart failure caused by loss of ...

https://en.wikipedia.org/wiki/Glossary_of_diabetes

GUCY2D Leber congenital amaurosis 10; 611755; CEP290 Leber congenital amaurosis 12; 610612; RD3 Leber congenital amaurosis 13; ... SLC16A1 Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1 Hyperkalemic periodic paralysis, type 2; 613345; SCN4A ... LRAT Leber congenital amaurosis 2; 204100; RPE65 Leber congenital amaurosis 3; 604232; SPATA7 Leber congenital amaurosis 4; ... congenital; 604219; BFSP2 Cataract, congenital, cerulean type, 3; 608983; CRYGD Cataract, congenital, X-linked; 302200; NHS ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

... congenital malformations, congenital infections, placental abruption, cord accidents, cord prolapse, placental infarcts, and ... "Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism". The Journal of ... congenital HIV infection, Syphilis Erythroblastosis fetalis Congenital abnormalities Placental genes Maternal genes: Endothelin ...

https://en.wikipedia.org/wiki/Intrauterine_growth_restriction

Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone ... medlineplus.gov/genetics/condition/congenital-hyperinsulinism/ Congenital hyperinsulinism. ... Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a ... Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced ...

https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism

Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by excess insulin secretion, which results in ... Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. *Dongsheng Guo1,2 ... Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8. Hum Mol Genet 24, 5142-5153, ... Yorifuji, T. Congenital hyperinsulinism: current status and future perspectives. Annals of pediatric endocrinology & metabolism ...

https://www.nature.com/articles/s41598-017-03349-w?error=cookies_not_supported

Search of: Hyperinsulinemic Hypoglycemia AND hypoglycemia AND glucagon , Congenital Hyperinsulinism - Modify Search. Expert ...

https://www.clinicaltrials.gov/ct2/results/refine?term=Hyperinsulinemic+Hypoglycemia+AND+hypoglycemia+AND+glucagon&cond=Congenital+Hyperinsulinism&map=EU

... mosaicism and diploid/triploid mosaicism were present in two distinct patients with congenital hyperinsulinism. These ... Congenital hyperinsulinism and mosaic abnormalities of the ploidy I Giurgea, D Sanlaville, J-C Fournet, C Sempoux, C Bellanné- ... Congenital hyperinsulinism and mosaic abnormalities of the ploidy I Giurgea et al. J Med Genet. 2006 Mar. ... Congenital hyperinsulinism]. Christesen HB, Brusgaard K, Jacobsen BB. Christesen HB, et al. Ugeskr Laeger. 2001 Apr 23;163(17): ...

https://pubmed.ncbi.nlm.nih.gov/16033916

The Congenital Hyperinsulinism Center at the Childrens Hospital of Philadelphia is working on a research study to better ... understand how people with hyperinsulinism may have different blood sugar responses to certain tests (like fasting or drinking ... a high-protein shake) when compared to people without hyperinsulinism. ... The Congenital Hyperinsulinism Center at the Childrens Hospital of Philadelphia is working on a research study to better ...

https://www.research.chop.edu/phenotyping-congenital-hyperinsulinism

Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by ... Dr Salomon-Estebanez is a clinical research fellow in Congenital Hyperinsuinism at the Northern Congenital Hyperinsulinism ( ... Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by ... Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. * ...

https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0547-3

Methods We compared the clinical features of KATP-hyperinsulinism and unknown hyperinsulinism cases. We performed logistic ... Design We studied 761 individuals with KATP-hyperinsulinism and 862 probands with hyperinsulinism of unknown aetiology ... of those who were diazoxide unresponsive had KATP-hyperinsulinism. Conclusions Individuals with hyperinsulinism born ... The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. We aimed to determine the ...

https://eje.bioscientifica.com/view/journals/eje/185/6/EJE-21-0476.xml?rskey=Ew6zuM&result=1

Introduction by Julie Raskin, followed by host Tony Dokoupil interviewing Dr. David Fajgenbaum.. ...

https://congenitalhi.org/2020-sugar-soiree-recap/

The researchers are working on a drug to treat a type of congenital hyperinsulinism that does not respond to any current ... Development of Exendin-(9-39) for the Treatment of Congenital Hyperinsulinism. Congenital hyperinsulinism is a rare, inherited ... Although congenital hyperinsulinism due to mutations in the KATP channel is a rare disease affecting approximately 1:20,000 to ... Four types of congenital hyperinsulinism are known, caused by different genetic mutations. The disease can be difficult to ...

https://ncats.nih.gov/bridgs/projects/complete/exendin-congenital-hyperinsulinism

Advances in Diagnosis and Treatment of Congenital Hyperinsulinism (Spanish). Topics Include: Endocrinology , Spanish , ... are pleased to invite you to view a talk on Advances in Diagnosis and Treatment of Congenital Hyperinsulinism. ... Chief of the Division of Endocrinology and Diabetes and Director of the Congenital Hyperinsulinism Center at CHOP. ...

https://open.chop.edu/courses/advances-in-diagnosis-and-treatment-of-congenital-hyperinsulinism-spanish/

Join Congenital Hyperinsulinism International during their Sugar Shindig this Saturday, October 8th 2016. This years event ... Join Congenital Hyperinsulinism International for the Sugar Shindig, 10/8. October 4, 2016 ... guidelines for infants and children and the Medical Director and Endowed Chair of the Cook Childrens Hyperinsulinism Center, ...

https://globalgenes.org/blog/join-congenital-hyperinsulinism-international-for-the-sugar-shindig-108/

Congenital Hyperinsulinism and Maple Syrup Urine Disease A Challenging Combination. Azza Al Shidhani1, Abdulhamid Al Hinai2, ... Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease ... Keywords: Hypoglycemia, congenital hyperinsulinemia, maple syrup urine disease, ABCC8 mutation, BCKDHA mutation. Corresponding ...

https://jcrpe.org/jvi.aspx?un=JCRPE-04796&volume=

Congenital Hyperinsulinism. A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated ... Hyperinsulinism. A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of ... Hyperinsulinism, autosomal recessive [Supplementary Concept]. Persistent hyperinsulinemic hypoglycemia of infancy due to focal ... recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It ...

https://www.ncbi.nlm.nih.gov/mesh?term=Hyperinsulinism

Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated ... Yau, D., Marwaha, R., Mohnike, K. et al. Case report: contradictory genetics and imaging in focal congenital hyperinsulinism ... Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated ... Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated ...

https://ijpeonline.biomedcentral.com/articles/10.1186/s13633-020-00086-2

Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. J Pediatr Surg. 2013 Feb;48(2):388-93 ... Laje P, Adzick NS: "Congenital Hyperinsulinism and Surgery" in Davenport M, Heaton N, Superina R (eds.): Surgery of the Liver, ... Laje P, Adzick NS: "Congenital Hyperinsulinism" in Mattei P, Nichol PF, Rollins MD and Muratore CS (eds.): Fundamentals of ... Adzick NS, Laje P: Congenital hyperinsulinism. In: Mattei P, Nichol PF, Rollins MD, Muratore CS (eds): Fundamentals of ...

https://www.chop.edu/doctors/laje-pablo

Congenital hyperinsulinism in a newborn presenting with poor feeding. Mazloom K, Sanchez-Lara PA, Langston S, Grand K, ...

https://pubmed.ncbi.nlm.nih.gov/?cmd=search&term=Grand+K%5Bau%5D&dispmax=50

Congenital hyperinsulinism in newborn and infant].. Giurgea I; Ribeiro MJ; Boddaert N; Touati G; Robert JJ; Saudubray JM; ... 8. Congenital hyperinsulinism.. Arnoux JB; de Lonlay P; Ribeiro MJ; Hussain K; Blankenstein O; Mohnike K; Valayannopoulos V; ... 4. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p. ... Surgical treatment of congenital hyperinsulinism.. Scott Adzick N. Semin Pediatr Surg; 2020 Jun; 29(3):150924. PubMed ID: ...

https://pubmedhh.nlm.nih.gov/biomarkers/search.php?id=24314195&mod=related&page=1&outid=&proj=

Stanley, C.A. Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders. J. Clin. Endocrinol. Metab. ...

https://www.mdpi.com/2073-4425/8/12/392

Congenital Hyperinsulinism Caused by Hexokinase I Expression or Glucokinase-Activating Mutation in a Subset of β-Cells ... Click here to open pdf in another window PDF for Congenital Hyperinsulinism Caused by Hexokinase I Expression or Glucokinase- ... Click here to open pdf in another window PDF for Congenital Hyperinsulinism-Associated ABCC8 Mutations That Cause Defective ... Congenital Hyperinsulinism-Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K+ Channels: ...

https://diabetesjournals.org/diabetes/search-results?f_SemanticFilterTopics=tolbutamide

The Use of Fluorodopa 18F Positron Emission Tomography Combined with Computed Tomography in Congenital Hyperinsulinism ... An Open-Label Multiple Dose Study of RZ358 in Patients With Congenital Hyperinsulinism ... An Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children with Congenital ... for the Treatment of Children with Congenital Hyperinsulinism? ... Hyperinsulinism Center Registry for Research and Quality Data ...

https://www.cookchildrens.org/healthcare-professionals/clinical-research/active-research-projects/

Mazor-Aronovitch K, Landau H, Gillis D (Mar 2009). "Surgical versus non-surgical treatment of congenital hyperinsulinism". ... "Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism". European Journal of Endocrinology ... "Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests ... "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...

https://wikidoc.org/index.php/Glutamate_dehydrogenase_1

Congenital Hyperinsulinism, Hypoglycemic Agents, Technological Development, Biomedical Technology, Public Health Laboratory ... Congenital Hyperinsulinism, Meningitis, Brain Injury, Chronic, Echocardiography, Persistent Fetal Circulation Syndrome, ... Congenital Abnormalities, Perinatal Care, Neonatal Nursing, Child Health Services, Child Health, Prenatal Nutrition, Women&apos ...

https://bvsalud.org/en/direve/?q=ginecologia+OR+neonatologia&filter=descriptor:Health+Services+AND+descriptor:Sa%C3%BAde+da+Crian%C3%A7a+AND+event_type:en^Symposium|es^Simposio|pt-br^Simp%C3%B3sio+AND+descriptor:Salud+P%C3%BAblica

Lanreotide has been given by injection to newborn infants with congenital hyperinsulinemia; reversible mild elevation of liver ... A multicenter experience with long-acting somatostatin analogues in patients with congenital hyperinsulinism. Horm Res Paediatr ... Lanreotide has been given by injection to newborn infants with congenital hyperinsulinemia; reversible mild elevation of liver ...

https://ncbi.nlm.nih.gov/books/n/lactmed/LM1475

... hypoglycaemia may not be accompanied by recognised neuroglycopenic symptoms in infants with congenital hyperinsulinism.5 ... Hyperinsulinism should be considered in a neonate when the glucose requirement is ,10 mg/kg/min. It should be considered in any ... Hyperinsulinism is diagnosed by the finding of detectable insulin levels, low free fatty acid concentrations and low ketones at ... For instance in hyperinsulinism, high levels of insulin inhibit mobilisation of free fatty acids from adipose tissue and ...

https://ep.bmj.com/content/102/1/28

Hyperinsulinism, Congenital Hyperinsulinism, Familial Hyperinsulinism, Neonatal Hypoglycemia, Hyperinsulinemic, of Infancy ... Congenital Bone Marrow Failure Syndromes [C16.614.183] * Congenital Hyperinsulinism [C16.614.200] * Nesidioblastosis [C16.614. ... Hyperinsulinism [C18.452.394.968] * Congenital Hyperinsulinism [C18.452.394.968.250] * Nesidioblastosis [C18.452.394.968. ... Congenital Hyperinsulinism Preferred Term Term UI T534661. Date03/06/2003. LexicalTag NON. ThesaurusID ...

https://meshb.nlm.nih.gov/record/ui?ui=D044903

Rarely, specific dominant loss of function (inactivating) missense mutations associated with congenital hyperinsulinism may ... Hyperinsulinism occurs in utero resulting in increased birthweight and risk of neonatal hypoglycaemia. The p.Arg63Trp mutation ...

http://www.medscape.com/s/viewarticle/980820

Congenital hyperinsulinism. Dillon, Patrick A. Curr Opin Pediatr ; 25(3): 357-61, 2013 Jun. ...

https://pesquisa.bvsalud.org/perinatal/?lang=es&q=au:Dillon,+Patrick+A

Congenital Hyperinsulinism 1 * Dentistry 1 * Education, Dental 1 * Education, Dental, Continuing 1 ...

https://brasil.bvs.br/en/direve/?q=country:Brasil+or+country:brasil&filter=thematic_area_display:pt-br^Minist%C3%A9rio+da+Sa%C3%BAde+(BR)|en^Ministry+of+Health+(BR)|es^Ministerio+de+Salud+(BR)+AND+publication_year:2023+AND+thematic_area_display:pt-br^Ci%C3%AAncias+da+Sa%C3%BAde+(BR)|en^Health+Sciences+(BR)|es^Ciencias+de+la+Salud+(BR)

Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results ...

https://edrn.nci.nih.gov/data-and-resources/biomarkers/glud1/

Congenital hyperinsulinism (CHI) is a condition where the bodys pancreas produces too much insulin - rather than too little as ... The clinical and academic teams work closely together within NorCHI (Northern Congenital Hyperinsulinism in Infancy service) to ... leading to congenital hyperinsulinism. She continued: CHI causes dangerously low blood sugar levels which can lead to ... The study was led by the University of Manchester and carried out at the two referral centres for hyperinsulinism in the UK, ...

http://mtbeurope.info/news/2011/1103041.htm

Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating. (medlineplus.gov)
A lack of glucose in the blood results in frequent states of hypoglycemia in people with congenital hyperinsulinism. (medlineplus.gov)
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by excess insulin secretion, which results in hypoglycemia. (nature.com)
Congenital hyperinsulinism due to mutations in the KATP channel (KATPHI) is characterized by severe hypoglycemia unresponsive to available medical therapy. (nih.gov)
Our preliminary data demonstrate that exendin-(9-39) inhibits insulin secretion and corrects fasting hypoglycemia in a mouse model of congenital hyperinsulinism (SUR-1−/− mice). (nih.gov)
Furthermore, the outcomes of this translational research project may have implications for treatment of other forms of hyperinsulinism and other forms of hypoglycemia in which GLP-1 may play a role, including post-prandial hypoglycemia after Nissen fundoplication and gastric bypass surgery. (nih.gov)
During the Sugar Shindig program, lead author of the recently published hypoglycemia guidelines for infants and children and the Medical Director and Endowed Chair of the Cook Children's Hyperinsulinism Center, Dr. Paul Thornton (below right) will speak on the importance of adopting guidelines for the management and evaluation of prolonged hypoglycemia. (globalgenes.org)
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. (jcrpe.org)

Histological findings diverged from those described in focal congenital hyperinsulinism or Beckwith-Wiedemann syndrome. (nih.gov)

Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated insulin secretion. (biomedcentral.com)
The clinical and academic teams work closely together within NorCHI (Northern Congenital Hyperinsulinism in Infancy service) to learn more about causes and treatments for this disease. (mtbeurope.info)

4. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p. (nih.gov)

Gene mutations that cause congenital hyperinsulinism lead to over-secretion of insulin from beta cells. (medlineplus.gov)
Mutations in at least nine genes have been found to cause congenital hyperinsulinism. (medlineplus.gov)
Less frequently, mutations in the KCNJ11 gene have been found in people with congenital hyperinsulinism. (medlineplus.gov)
Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. (biomedcentral.com)
Mutations in the KATP channel genes, ABCC8 and KCNJ11 , are the most common cause of congenital hyperinsulinism. (bioscientifica.com)
Four types of congenital hyperinsulinism are known, caused by different genetic mutations. (nih.gov)
Although congenital hyperinsulinism due to mutations in the KATP channel is a rare disease affecting approximately 1:20,000 to 1:50,000 children in this country, this devastating disease and its current treatment (near-total pancreatectomy) are associated with severe, life-threatening complications that could be prevented with effective medical therapy. (nih.gov)
Currently, there is no effective medical therapy for subjects with congenital hyperinsulinism due to mutations in the KATP channel. (nih.gov)
Rarely, specific dominant loss of function (inactivating) missense mutations associated with congenital hyperinsulinism may cause MODY with reduced penetrance but the mechanisms driving this are not understood. (medscape.com)
Activating mutations in this gene are a common cause of congenital hyperinsulinism. (nih.gov)
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism. (cdc.gov)
Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism. (cdc.gov)

Congenital hyperinsulinism (CHI) refers to a group of rare genetic disorders that are characterized by excess insulin secretion by pancreatic β-cells. (nature.com)

An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM . (nih.gov)

These researchers are working on a drug to treat one type of congenital hyperinsulinism that does not respond to any current medication and is typically treated by near-total removal of the infant's pancreas. (nih.gov)
Congenital hyperinsulinism (CHI) is a condition where the body's pancreas produces too much insulin - rather than too little as in diabetes - so understanding the disease has led to breakthroughs in diabetes treatment. (mtbeurope.info)
The clinical service at Royal Manchester Children's Hospital now includes state-of-the-art facilities for imaging the pancreas to detect hyperinsulinism. (mtbeurope.info)

Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. (bioscientifica.com)
Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism. (cdc.gov)

Two patients with severe congenital hyperinsulinism, one overlapping with Beckwith-Wiedemann syndrome, had pancreatic histology, ex vivo potassium channel electrophysiological studies, and mutation detection of the encoding genes. (nih.gov)
In patient 1 with congenital hyperinsulinism and Beckwith-Wiedemann syndrome, paternal isodisomy for the whole haploid set was homogeneous in the pancreatic lesion, and mosaic in the leucocytes and skin fibroblasts (hemihypertrophic segment). (nih.gov)
1. Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism. (nih.gov)

To report abnormalities of the ploidy in two unrelated patients with congenital hyperinsulinism. (nih.gov)
Sexual Differentiation Disorder A congenital disorder characterized by abnormalities in the development of the sexual characteristics. (nih.gov)

17. [Congenital hyperinsulinism in newborn and infant]. (nih.gov)

A multicenter experience with long-acting somatostatin analogues in patients with congenital hyperinsulinism. (nih.gov)
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. (cdc.gov)
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. (cdc.gov)
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism. (cdc.gov)

Higher birth weight, diazoxide unresponsiveness and diagnosis in the first week of life were independently associated with KATP-hyperinsulinism (adjusted odds ratio: 4.5 (95% CI: 3.4-5.9), 0.09 (0.06-0.13) and 3.3 (2.0-5.0) respectively). (bioscientifica.com)
Birth weight and diazoxide unresponsiveness were additive and highly discriminatory for identifying KATP-hyperinsulinism (ROC area under the curve for birth weight 0.80, diazoxide responsiveness 0.77, and together 0.88, 95% CI: 0.85-0.90). (bioscientifica.com)
In this study, 86% born large for gestation and 78% born appropriate for gestation and who did not respond to diazoxide treatment had KATP-hyperinsulinism. (bioscientifica.com)
In contrast, of those individuals born small for gestation, none who were diazoxide responsive and only 4% of those who were diazoxide unresponsive had KATP-hyperinsulinism. (bioscientifica.com)
16. Hepatoblastoma and Wilms' tumour in an infant with Beckwith-Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism. (nih.gov)

3. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome. (nih.gov)
5. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. (nih.gov)
7. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. (nih.gov)

The Dominican Society of Pediatric Endocrinology (SODEP), in conjunction with the Dominican Society of Endocrinology and Nutrition (SODENN) and Children's Hospital of Philadelphia (CHOP) are pleased to invite you to view a talk on Advances in Diagnosis and Treatment of Congenital Hyperinsulinism. (chop.edu)
Our main speaker is Diva de León-Crutchlow, MD, MSCE , Chief of the Division of Endocrinology and Diabetes and Director of the Congenital Hyperinsulinism Center at CHOP. (chop.edu)

14. Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases. (nih.gov)

When these proteins fail to function the cells can either release too little insulin - resulting in diabetes mellitus, or too much insulin - leading to congenital hyperinsulinism. (mtbeurope.info)

The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. (bioscientifica.com)
We aimed to determine the clinical features that help to identify KATP-hyperinsulinism at diagnosis. (bioscientifica.com)
We compared the clinical features of KATP-hyperinsulinism and unknown hyperinsulinism cases. (bioscientifica.com)
The team hope that their findings will pave the way for new or similar drugs to be used in clinical trials for hyperinsulinism. (mtbeurope.info)
The Company's lead clinical asset, RZ358, is in late-stage development for the treatment of congenital hyperinsulinism, a rare pediatric endocrine disorder. (advfn.com)

C89330 Developmental Disorder C103185 Congenital Reproductive System Abnormality C118467 Pediatric Endocrine Terminology C110940 Panhypopituitarism Panhypopituitarism Complete Hypopituitarism Insufficient production of all the anterior pituitary hormones. (nih.gov)

Congenital hyperinsulinism is a rare, inherited disease affecting about 1 in 25,000 to 1 in 50,000 infants. (nih.gov)

The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. (medlineplus.gov)

Fatty acid oxidation defects, hyperinsulinism and adrenal insufficiency should always be excluded prior to organising controlled fasts. (bmj.com)

The focal form of congenital hyperinsulinism occurs when only some of the beta cells over-secrete insulin. (medlineplus.gov)
Hyperinsulinism occurs in utero resulting in increased birthweight and risk of neonatal hypoglycaemia. (medscape.com)

Our long-term objective is to develop exendin-(9-39) as a new therapy for the treatment of congenital hyperinsulinism. (nih.gov)
2. Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. (nih.gov)
13. Surgical treatment of congenital hyperinsulinism. (nih.gov)
15. A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. (nih.gov)
A Randomized Trial in 2 parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children with Congenital Hyperinsulinism? (cookchildrens.org)

The Congenital Hyperinsulinism Center at the Children's Hospital of Philadelphia is working on a research study to better understand how people with hyperinsulinism may have different blood sugar responses to certain tests (like fasting or drinking a high-protein shake) when compared to people without hyperinsulinism. (chop.edu)

We studied 761 individuals with KATP-hyperinsulinism and 862 probands with hyperinsulinism of unknown aetiology diagnosed before 6 months of age. (bioscientifica.com)

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. (cdc.gov)

However, in people with congenital hyperinsulinism, insulin is secreted from beta cells regardless of the amount of glucose present in the blood. (medlineplus.gov)

Join Congenital Hyperinsulinism International during their Sugar Shindig this Saturday, October 8th 2016. (globalgenes.org)

Congenital hyperinsulinism and Beckwith-Wiedemann syndrome both lead to beta islet hyperplasia and neonatal hypoglycaemia. (nih.gov)

Congenital conditions in which there is variation in the number and/or structure of the sex chromosomes, and/or in which the development of gonadal, reproductive, and/or genital structures is atypical. (nih.gov)

18. 18F-DOPA PET and enhanced CT imaging for congenital hyperinsulinism: initial UK experience from a technologist's perspective. (nih.gov)

Anatomy1

Diseases4

Chemicals and Drugs9

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes3

Named Groups1

Hyperinsulinism in infancy: from basic science to clinical disease. (1/62)

Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. (2/62)

Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants. (3/62)

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. (4/62)

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (5/62)

Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (6/62)

Molecular mechanisms of neonatal hyperinsulinism. (7/62)

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. (8/62)

Congenital Hyperinsulinism

Hyperinsulinism

Sulfonylurea Receptors

Receptors, Drug

Potassium Channels, Inwardly Rectifying

Diazoxide

Pancreatectomy

ATP-Binding Cassette Transporters

KATP Channels

Hypoglycemia

Glutamate Dehydrogenase

Insulin

Potassium Channels

Insulin-Secreting Cells

Infant, Newborn

Mutation

Mutation, Missense

Heterozygote

Diagnostic Techniques, Endocrine

Hyperammonemia

Hyperinsulinism in infancy: from basic science to clinical disease. (1/62)

Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. (2/62)

Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants. (3/62)

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. (4/62)

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (5/62)

Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (6/62)

Molecular mechanisms of neonatal hyperinsulinism. (7/62)

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. (8/62)

Congenital hyperinsulinism

Sulfonylurea receptor

Hyperinsulinemia

GLUDP5

ABCC8

Glutamate dehydrogenase 1

Kir6.2

Hyperinsulinism-hyperammonemia syndrome

Neonatal hypoglycemia

Daniel Ricquier

Diazoxide

Glucokinase

Nesidioblastosis

Congenital disorder of glycosylation

Glucose meter

Colin Nichols

List of congenital disorders

Hyperinsulinemic hypoglycemia

Glucose-elevating agent

Jesé

List of causes of hypoglycemia

List of diseases (H)

Prenatal nutrition

Hyperammonemia

USH1C

List of MeSH codes (C18)

Glossary of diabetes

List of OMIM disorder codes

Intrauterine growth restriction

Congenital hyperinsulinism: MedlinePlus Genetics

Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9 | Scientific...

Search of: Hyperinsulinemic Hypoglycemia AND hypoglycemia AND glucagon | Congenital Hyperinsulinism - Modify Search -...

Congenital hyperinsulinism and mosaic abnormalities of the ploidy - PubMed

Phenotyping Congenital Hyperinsulinism | CHOP Research Institute

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time |...

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in...

2020 Sugar Soirée Recap | Congenital Hyperinsulinism International

Development of Exendin-(9-39) for the Treatment of Congenital Hyperinsulinism | National Center for Advancing Translational...

Advances in Diagnosis and Treatment of Congenital Hyperinsulinism (Spanish) - CHOP OPEN

Join Congenital Hyperinsulinism International for the Sugar Shindig, 10/8 - Global Genes

Congenital Hyperinsulinism and Maple Syrup Urine Disease A Challenging Combination [J Clin Res Pediatr Endocrinol]

Hyperinsulinism - MeSH - NCBI

Case report: contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy |...

Pablo Laje, MD | Children's Hospital of Philadelphia

Grand K[au] - Search Results - PubMed

Biomarkers Search

Genes | Free Full-Text | Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective

Search Results | Diabetes | American Diabetes Association

Active Research Projects

Glutamate dehydrogenase 1 - wikidoc

Portal Regional da BVS

Lanreotide - Drugs and Lactation Database (LactMed®) - NCBI Bookshelf