Congenital Hyperinsulinism: 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).Hyperinsulinism: 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.Sulfonylurea Receptors: 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.Receptors, Drug: 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, Inwardly Rectifying: Potassium channels where the flow of K+ ions into the cell is greater than the outward flow.Diazoxide: A benzothiadiazine derivative that is a peripheral vasodilator used for hypertensive emergencies. It lacks diuretic effect, apparently because it lacks a sulfonamide group.Hypoglycemia: 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.Diagnostic Techniques, Endocrine: Methods and procedures for the diagnosis of diseases or dysfunction of the endocrine glands or demonstration of their physiological processes.Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.Glutamate Dehydrogenase: 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.ATP-Binding Cassette Transporters: 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.Pancreatectomy: Surgical removal of the pancreas. (Dorland, 28th ed)Insulin: 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).Insulinoma: A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.KATP Channels: 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.Insulin Antibodies: Antibodies specific to INSULIN.Sulfonylurea CompoundsBeckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.3-Hydroxyacyl CoA Dehydrogenases: Enzymes that reversibly catalyze the oxidation of a 3-hydroxyacyl CoA to 3-ketoacyl CoA in the presence of NAD. They are key enzymes in the oxidation of fatty acids and in mitochondrial fatty acid synthesis.Potassium Channels: 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.Infant, Newborn: An infant during the first month after birth.Congenital Disorders of Glycosylation: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.Cyclin-Dependent Kinase Inhibitor p57: A potent inhibitor of CYCLIN-DEPENDENT KINASES in G1 PHASE and S PHASE. In humans, aberrant expression of p57 is associated with various NEOPLASMS as well as with BECKWITH-WIEDEMANN SYNDROME.Mutation: 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.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Islets of Langerhans: Irregular microscopic structures consisting of cords of endocrine cells that are scattered throughout the PANCREAS among the exocrine acini. Each islet is surrounded by connective tissue fibers and penetrated by a network of capillaries. There are four major cell types. The most abundant beta cells (50-80%) secrete INSULIN. Alpha cells (5-20%) secrete GLUCAGON. PP cells (10-35%) secrete PANCREATIC POLYPEPTIDE. Delta cells (~5%) secrete SOMATOSTATIN.Tolbutamide: A sulphonylurea hypoglycemic agent with actions and uses similar to those of CHLORPROPAMIDE. (From Martindale, The Extra Pharmacopoeia, 30th ed, p290)Insulin-Secreting Cells: A type of pancreatic cell representing about 50-80% of the islet cells. Beta cells secrete INSULIN.Hyperandrogenism: A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION.Blood Glucose: Glucose in blood.Mutation, Missense: 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)Chlorthalidone: A benzenesulfonamide-phthalimidine that tautomerizes to a BENZOPHENONES form. It is considered a thiazide-like diuretic.Octreotide: A potent, long-acting synthetic SOMATOSTATIN octapeptide analog that inhibits secretion of GROWTH HORMONE and is used to treat hormone-secreting tumors; DIABETES MELLITUS; HYPOTENSION, ORTHOSTATIC; HYPERINSULINISM; hypergastrinemia; and small bowel fistula.Proinsulin: A pancreatic polypeptide of about 110 amino acids, depending on the species, that is the precursor of insulin. Proinsulin, produced by the PANCREATIC BETA CELLS, is comprised sequentially of the N-terminal B-chain, the proteolytically removable connecting C-peptide, and the C-terminal A-chain. It also contains three disulfide bonds, two between A-chain and B-chain. After cleavage at two locations, insulin and C-peptide are the secreted products. Intact proinsulin with low bioactivity also is secreted in small amounts.Pancreas: A nodular organ in the ABDOMEN that contains a mixture of ENDOCRINE GLANDS and EXOCRINE GLANDS. The small endocrine portion consists of the ISLETS OF LANGERHANS secreting a number of hormones into the blood stream. The large exocrine portion (EXOCRINE PANCREAS) is a compound acinar gland that secretes several digestive enzymes into the pancreatic ductal system that empties into the DUODENUM.Hamartoma: A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.C-Peptide: The middle segment of proinsulin that is between the N-terminal B-chain and the C-terminal A-chain. It is a pancreatic peptide of about 31 residues, depending on the species. Upon proteolytic cleavage of proinsulin, equimolar INSULIN and C-peptide are released. C-peptide immunoassay has been used to assess pancreatic beta cell function in diabetic patients with circulating insulin antibodies or exogenous insulin. Half-life of C-peptide is 30 min, almost 8 times that of insulin.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Pancreatic Neoplasms: Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).Hypopituitarism: Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Ammonia: A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Syndrome: A characteristic symptom complex.Adenosine Triphosphate: An adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.Glucose: A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.Homozygote: An individual in which both alleles at a given locus are identical.Glucose Tolerance Test: A test to determine the ability of an individual to maintain HOMEOSTASIS of BLOOD GLUCOSE. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
Effect of hyperglycemia-hyperinsulinemia on whole body and regional fatty acid metabolism. (1/1504)
The effects of combined hyperglycemia-hyperinsulinemia on whole body, splanchnic, and leg fatty acid metabolism were determined in five volunteers. Catheters were placed in a femoral artery and vein and a hepatic vein. U-13C-labeled fatty acids were infused, once in the basal state and, on a different occasion, during infusion of dextrose (clamp; arterial glucose 8.8 +/- 0.5 mmol/l). Lipids and heparin were infused together with the dextrose to maintain plasma fatty acid concentrations at basal levels. Fatty acid availability in plasma and fatty acid uptake across the splanchnic region and the leg were similar during the basal and clamp experiments. Dextrose infusion decreased fatty acid oxidation by 51.8% (whole body), 47.4% (splanchnic), and 64.3% (leg). Similarly, the percent fatty acid uptake oxidized decreased at the whole body level (53 to 29%), across the splanchnic region (30 to 13%), and in the leg (48 to 22%) during the clamp. We conclude that, in healthy men, combined hyperglycemia-hyperinsulinemia inhibits fatty acid oxidation to a similar extent at the whole body level, across the leg, and across the splanchnic region, even when fatty acid availability is constant. (+info)Relative contribution of insulin and its precursors to fibrinogen and PAI-1 in a large population with different states of glucose tolerance. The Insulin Resistance Atherosclerosis Study (IRAS). (2/1504)
Hyperinsulinemia is associated with the development of coronary heart disease. However, the underlying mechanisms are still poorly understood. Hypercoagulability and impaired fibrinolysis are possible candidates linking hyperinsulinism with atherosclerotic disease, and it has been suggested that proinsulin rather than insulin is the crucial pathophysiological agent. The aim of this study was to investigate the relationship of insulin and its precursors to markers of coagulation and fibrinolysis in a large triethnic population. A strong and independent relationship between plasminogen activator inhibitor-1 (PAI-1) antigen and insulin and its precursors (proinsulin, 32-33 split proinsulin) was found consistently across varying states of glucose tolerance (PAI-1 versus fasting insulin [proinsulin], r=0.38 [r=0.34] in normal glucose tolerance; r=0.42 [r=0.43] in impaired glucose tolerance; and r=0.38 [r=0.26] in type 2 diabetes; all P<0.001). The relationship remained highly significant even after accounting for insulin sensitivity as measured by a frequently sampled intravenous glucose tolerance test. In a stepwise multiple regression model after adjusting for age, sex, ethnicity, and clinic, both insulin and its precursors were significantly associated with PAI-1 levels. The relationship between fibrinogen and insulin and its precursors was significant in the overall population (r=0.20 for insulin and proinsulin; each P<0.001) but showed a more inconsistent pattern in subgroup analysis and after adjustments for demographic and metabolic variables. Stepwise multiple regression analysis showed that proinsulin (split products) but not fasting insulin significantly contributed to fibrinogen levels after adjustment for age, sex, clinic, and ethnicity. Decreased insulin sensitivity was independently associated with higher PAI-1 and fibrinogen levels. In summary, we were able to demonstrate an independent relationship of 2 crucial factors of hemostasis, fibrinogen and PAI-1, to insulin and its precursors. These findings may have important clinical implications in the risk assessment and prevention of macrovascular disease, not only in patients with overt diabetes but also in nondiabetic subjects who are hyperinsulinemic. (+info)The contributions of oestrogen and growth factors to increased adrenal androgen secretion in polycystic ovary syndrome. (3/1504)
Adrenal hyperandrogenism is prevalent in many women with polycystic ovary syndrome (PCOS), although the expression of this enhanced secretion may be heterogeneous. Since no single factor acts in isolation, this study was performed to assess the influence of oestradiol (total and unbound), insulin, insulin-like growth factor (IGF)-I, IGF-II and the binding proteins IGFBP-I, and IGFBP-3, on basal and adrenocorticotrophic hormone (ACTH) stimulated adrenal androgen secretion in 25 women with PCOS and 10 matched ovulatory controls. Women with PCOS exhibited elevations of all androgens as well as unbound oestradiol, insulin and non-IGFBP-1 bound IGF-I. Positive correlations were noted between oestrogen and basal and ACTH stimulated delta 5 adrenal androgens. Serum IGF-I was only correlated with basal dehydroepiandrosterone sulphate (DHEA-S), while insulin exhibited a strong correlation with the delta 4 pathway and androstenedione formation in particular. This correlation was also confirmed by dividing the PCOS group into those women with and without hyperinsulinaemia. The activity of 17,20 lyase favouring androstenedione was increased in the hyperinsulinaemic women. By multivariate analyses, body mass index did not influence these findings. Although there are inherent difficulties in making major conclusions based on correlative analyses, it is suggested that oestrogen may have a greater influence on enhancing delta 5 adrenal androgen secretion, and insulin a greater effect on the delta 4 pathway. In turn, the relative importance of these influences may contribute to the heterogeneous nature of adrenal hyperandrogenism in PCOS. (+info)Pancreatic exocrine and endocrine function after pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy. (4/1504)
AIM: To evaluate long term detailed pancreatic endocrine and exocrine function in children with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) after 85-95% pancreatectomy. METHODS: Six children with PHHI between 0.9 and 12.7 years after pancreatic resection underwent clinical and investigative follow up at 1.0 to 14.9 years of age. One child with PHHI who had not had pancreatectomy was also assessed. Standard endocrine assessment, pancreatic magnetic resonance imaging (MRI), and detailed direct and indirect tests of exocrine pancreatic function were performed. RESULTS: Pancreozymin-secretin stimulation test results were normal in only one child, borderline in two, and deficient in four, one of whom requires daily pancreatic enzyme supplements. Pancreolauryl tests performed in three children were borderline in two and abnormal in the other. Only one child had low faecal chymotrypsin values. One child developed insulin dependent diabetes at 9 years and two children at 1.0 and 13.3 years require diazoxide to maintain normoglycaemia. MRI showed no major regrowth of the pancreatic remnant after resection (n = 5). CONCLUSIONS: Clinical evidence of endocrine or exocrine dysfunction has developed in only two patients to date, but detailed pancreatic function testing suggests subclinical deficiency in all but one of our patients with PHHI. Although 95% pancreatectomy results in postoperative control of blood glucose, subclinical pancreatic insufficiency is present on long term follow up and development of diabetes mellitus and exocrine failure remain ongoing risks. (+info)Long-term follow up of persistent hyperinsulinaemic hypoglycaemia of infancy. (5/1504)
Twenty six children with hypoglycaemia were diagnosed and followed between 1975 and 1995. Diagnosis was confirmed by a high insulin:glucose ratio, and low free fatty acid and 3-hydroxybutyrate on fasting. All patients were treated with diazoxide at a maximum dose of 20 mg/kg/day. Requirement of a higher dose was considered as a failure of medical treatment and an indication for surgery. Sixteen children Responded to diazoxide; 10 failed to respond and underwent pancreatic resection. Six of the latter group started with symptoms in the neonatal period. Eleven of the 26 children have neurological sequelae. Head growth and neurological outcome correlated well. Additionally, non-specific electroencephalogram abnormalities (slow waves) appear to be indicative of subclinical hypoglycaemia during follow up. (+info)Hyperinsulinism: molecular aetiology of focal disease. (6/1504)
Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism. (+info)The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells. (7/1504)
ATP-sensitive K+ channels (KATP channels) play important roles in many cellular functions by coupling cell metabolism to electrical activity. The KATP channels in pancreatic beta-cells are thought to be critical in the regulation of glucose-induced and sulfonylurea-induced insulin secretion. Until recently, however, the molecular structure of the KATP channel was not known. Cloning members of the novel inwardly rectifying K+ channel subfamily Kir6.0 (Kir6.1 and Kir6.2) and the sulfonylurea receptors (SUR1 and SUR2) has clarified the molecular structure of KATP channels. The pancreatic beta-cell KATP channel comprises two subunits: a Kir6.2 subunit and an SUR1 subunit. Molecular biological and molecular genetic studies have provided insights into the physiological and pathophysiological roles of the pancreatic beta-cell KATP channel in insulin secretion. (+info)Surgery-induced insulin resistance in human patients: relation to glucose transport and utilization. (8/1504)
To investigate the underlying molecular mechanisms for surgery-induced insulin resistance in skeletal muscle, six otherwise healthy patients undergoing total hip replacement were studied before, during, and after surgery. Patients were studied under basal conditions and during physiological hyperinsulinemia (60 microU/ml). Biopsies of vastus lateralis muscle were used to measure GLUT-4 translocation, glucose transport, and glycogen synthase activities. Surgery reduced insulin-stimulated glucose disposal (P < 0.05) without altering the insulin-stimulated increase in glucose oxidation or suppression of endogenous glucose production. Preoperatively, insulin infusion increased plasma membrane GLUT-4 in all six subjects (P < 0.05), whereas insulin-stimulated GLUT-4 translocation only occurred in three patients postoperatively (not significant). Moreover, nonoxidative glucose disposal rates and basal levels of glycogen synthase activities in muscle were reduced postoperatively (P < 0.05). These findings demonstrate that peripheral insulin resistance develops immediately postoperatively and that this condition might be associated with perturbations in insulin-stimulated GLUT-4 translocation as well as nonoxidative glucose disposal, presumably at the level of glycogen synthesis. (+info)Patients with congenital hyperinsulinismInfancyMutationsNeonatalForms of congenitalLiving with congenital hyperinsulinismSecretionDiazoxideDiagnosisGenesPancreasPancreatectomyTransient hyperinsulinismGlucokinaseEndogenousGlucose2017PancreaticCause of persistent hypoglycemiaSomatostatin agonists for hyperinsulinismPerioperative Management of HyperinsulinismSevereHypoglycaemiaClinicalForm of HyperinsulinismTypes of hyperinsulinismNeonates with hyperinsulinismChildren with hyperinsulinismHyperinsulinemia or HyperinsulinismTreatment of congenitalDiabetesDiffuse formGlutamate dehydrogenaseNewbornsFetalNeonateSurgeryDeficiencyAcanthosis nigricansIsletFamilial
Patients with congenital hyperinsulinism6
- Our multidisciplinary approach to patients with congenital hyperinsulinism can distinguish focal from diffuse disease, localize focal lesions, and permit partial pancreatectomy with cure in almost all patients. (springer.com)
- XOMA is conducting Phase 2 development activities for 358 in patients with congenital hyperinsulinism (CHI) and in patients with hypoglycemia post-bariatric surgery (PBS). (xoma.com)
- Khalid has treated over 500 patients with congenital hyperinsulinism from all over the world. (hyperinsulinismgenes.org)
- Kevin oversees the MODY genetic testing service and is involved in the routine genetic testing for UK patients with congenital hyperinsulinism. (hyperinsulinismgenes.org)
- Becky is part of the team who perform the laboratory analysis for patients with congenital hyperinsulinism. (hyperinsulinismgenes.org)
- REDWOOD CITY, Calif., Feb. 10, 2020 (GLOBE NEWSWIRE) -- Rezolute, Inc. ("Rezolute" or "the Company") (OTCQB:RZLT), today announced the initiation of the RIZE study (RZ358-606), a Phase 2b clinical trial of its lead candidate, RZ358, in patients with congenital hyperinsulinism (CHI). (rezolutebio.com)
Infancy17
- Children who have recurrent hyperinsulinemic hypoglycemia in infancy can suffer harm to the brain The cause of congenital hyperinsulinism has been linked to anomalies in nine different genes. (wikipedia.org)
- A GIR above 8 mg/kg/minute in infancy suggests hyperinsulinism. (wikipedia.org)
- Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. (springer.com)
- Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (springer.com)
- Surgical management of congenital hyperinsulinism of infancy. (springer.com)
- Classification of hyperinsulinism in infancy is described below. (medscape.com)
- Also, by consensus most international teams taking care of hyperinsulinism in infancy propose this treatment to their patients. (clinicaltrials.gov)
- Persistent hyperinsulinemic hypoglycemia of infancy or congenital hyperinsulinism of the neonate is a rare condition that may cause severe neurologic damage if the disease is unrecognized or inadequately treated. (aappublications.org)
- Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), or congenital hyperinsulinism, is a rare disease characterized by inappropriate insulin secretion in the presence of hypoglycemia. (aappublications.org)
- 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. (diabetesjournals.org)
- Congenital hyperinsulinism of infancy (CHI) is a severe disease that carries a high risk of neurological complications secondary to deep uncontrollable hypoglycemia ( 1 , 2 ). (diabetesjournals.org)
- Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. (sigmaaldrich.com)
- Hyperinsulinism most commonly presents in the newborn period, but can also present during infancy and childhood. (hyperinsulinismgenes.org)
- Congenital Hyperinsulinism (HI) is the main cause of persistent hypoglycemia in the newborn and infancy. (heraldopenaccess.us)
- Congenital hyperinsulinism is the most frequent cause of severe persistent hypoglycemia in early infancy. (uchicago.edu)
- Hardy, OT & Stanley, CA 2006, Hyperinsulinism of infancy: Localization of focal forms . (elsevier.com)
- Stanley, Charles A. / Hyperinsulinism of infancy : Localization of focal forms . (elsevier.com)
Mutations13
- In terms of the mechanism of congenital hyperinsulinism one sees that channel trafficking requires KATP channels need the shielding of ER retention signal.E282K prevents the KATP channel surface expression, the C-terminus (SUR1 subunit) is needed in KATP channel mechanism.R1215Q mutations (ABCC8 gene) affect ADP gating which in turn inhibits KATP channel. (wikipedia.org)
- 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)
- Mutations in two genes encoding the potassium channels, SUR1 and KIR6.2, are responsible for hyperinsulinism resistant to diazoxide. (clinicaltrials.gov)
- Congenital forms of hyperinsulinism are associated with recessive, dominant, or sporadic genetic defects in insulin regulation--particularly mutations of the beta-cell ATP-dependent potassium channel. (renalandurologynews.com)
- Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9 genes. (nih.gov)
- The majority of cases with persistent hyperinsulinism are due to mutations of a single gene. (hyperinsulinismgenes.org)
- Loss of channel function because of mutations in Kir6.2 or its associated regulatory subunit, sulfonylurea receptor 1, causes congenital hyperinsulinism (CHI), a neonatal disease characterized by persistent insulin secretion despite severe hypoglycemia. (elsevier.com)
- Mutations in the genes encoding these proteins are the most common cause of congenital hyperinsulinism (CHI). (ox.ac.uk)
- Compound heterozygous mutations in congenital hyperinsulinism result in complex interactions. (elsevier.com)
- These mutations may also cause focal hyperinsulinism in which there is an area of β-cell adenomatosis due to loss of heterozygosity for the maternal 11p region and expression of a paternally derived KATP channel mutation (3). (elsevier.com)
- Relevance Currently, there are no effective medical therapies for children with congenital hyperinsulinism due to inactivating mutations of the KATP channels and most affected children require pancreatectomy for intractable hypoglycemia. (grantome.com)
Neonatal5
- Transient neonatal hyperinsulinism is common due to perinatal stress, including birth asphyxia, preeclampsia, and intrauterine growth retardation. (renalandurologynews.com)
- Transient neonatal hyperinsulinism can last for several days to weeks after birth and can be treated with frequent feedings or diazoxide depending on the severity. (renalandurologynews.com)
- Congenital hyperinsulinism often presents as hypoglycemia in the neonatal period, but it can present later depending on the type and severity of the underlying mutation. (renalandurologynews.com)
- Background: Children with hypoglycaemia due to Congenital Hyperinsulinism (CHI) usually present in the neonatal period but late presentations also occur. (endocrine-abstracts.org)
- Sian's research focuses on understanding the underlying genetic mechanisms of monogenic endocrine disorders including congenital hyperinsulinism and neonatal diabetes. (hyperinsulinismgenes.org)
Forms of congenital7
- Other presentations are: Dizziness Intellectual disability Hypoglycemic coma Cardiomegaly The variable ages of presentations and courses suggest that some forms of congenital hyperinsulinism, especially those involving abnormalities of KATP channel function, can worsen or improve with time the potential harm from hyperinsulinemic hypoglycemia depends on the severity, and duration. (wikipedia.org)
- Intraoperative sonography: a technique for localizing focal forms of congenital hyperinsulinism in the pancreas. (springer.com)
- Rahier J, Guiot Y, Sempoux C. Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism. (springer.com)
- The variable ages of presentations and courses suggest that some forms of congenital hyperinsulinism, especially those involving abnormalities of K ATP channel function, can gradually worsen or improve with time. (chemeurope.com)
- The long-term goals of the research are to identify genotype- phenotype correlations in these disorders to guide diagnosis and treatment and to uncover new forms of congenital hyperinsulinism. (grantome.com)
- Beyond the 2 classical forms of congenital hyperinsulinism, focal and diffuse, we report our experience on the surgical treatment of atypical forms. (naver.com)
- Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism. (uclouvain.be)
Living with congenital hyperinsulinism1
- In honor of Rare Disease Day, February 28, 2015, Congenital Hyperinsulinism International (CHI) held the inaugural Sugar Shindig in Austin, Texas in support of patients living with congenital hyperinsulinism. (congenitalhi.org)
Secretion15
- Hyperinsulinism can be associated with several types of medical problems, which can be roughly divided into two broad and largely non-overlapping categories: those tending toward reduced sensitivity to insulin and high blood glucose levels (hyperglycemia), and those tending toward excessive insulin secretion and low glucose levels (hypoglycemia). (wikipedia.org)
- Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion. (wikipedia.org)
- However, children with persistent hyperinsulinism may have a genetic defect that results in inappropriate secretion of insulin. (medscape.com)
- Congenital hyperinsulinism is characterized by inappropriate and unregulated insulin secretion from the beta-cells of the pancreas. (gosh.nhs.uk)
- Infants with congenital hyperinsulinism have excessive prenatal and postnatal insulin secretion due to defects in pathways of insulin secretion (most commonly the K ATP channel). (bmj.com)
- Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. (nih.gov)
- Background: Congenital hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. (endocrine-abstracts.org)
- Congenital hyperinsulinism (CHI) is a rare, genetic disease characterised by excessive and unregulated insulin secretion from the β-cells of the pancreas, resulting in persistent and severe hypoglycaemia (low blood glucose) [ 1 , 2 ]. (biomedcentral.com)
- Congenital hyperinsulinism (CHI) is a heterogeneous disorder leading to increased, often unregulated secretion of insulin from pancreatic beta cells. (biomedcentral.com)
- Congenital hyperinsulinism, to reduce insulin secretion where diazoxide has been unsuccessful. (aetna.com)
- Mutant expression resulted in more depolarized membrane potential and elevated insulin secretion at basal glucose concentration (3 mM) compared with cells expressing wild type channels, demonstrating that the inactivation gating defect itself is sufficient to cause loss of channel function and hyperinsulinism. (elsevier.com)
- Congenital hyperinsulinism (CHI) occurs as a consequence of unregulated insulin secretion from the pancreatic beta-cells. (elsevier.com)
- Congenital hyperinsulinism is clinically characterized by an inappropriate insulin secretion resulting in recurrent severe hypoglycemia. (uclouvain.be)
- Congenital hyperinsulinism (CHI) is a rare genetic disorder of pancreatic beta-cell function characterized by failure to suppress insulin secretion in the presence of hypoglycemia, resulting in brain damage or death if inadequately controlled. (grantome.com)
- Congenital hyperinsulinism is a rare, genetic, pediatric endocrine disorder that leads to the inappropriate secretion of the hormone insulin by the pancreas. (rezolutebio.com)
Diazoxide6
- Diazoxide, a potassium channel agonist, is the drug of choice for treatment of hyperinsulinism. (renalandurologynews.com)
- Some infants with congenital hyperinsulinism are severely affected and require surgery if they are unresponsive to diazoxide. (renalandurologynews.com)
- Children diagnosed with hyperinsulinism who are successfully managed with diazoxide, octreotide, other medications,and/or tube feedings. (clinicaltrials.gov)
- Aim 2 will extend the search for defects in novel candidate genes in our large series of children with diazoxide responsive hyperinsulinism that have no identifiable mutation. (grantome.com)
- Please note: Any gene in the Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Panel can also be ordered individually. (uchicago.edu)
- Most of the cases with severe hyperinsulinism do not respond to medical therapy with diazoxide, octreotide (Fig. 27B.1), or continuous feedings and require near-total pancreatectomy to control hypoglycemia. (elsevier.com)
Diagnosis13
- The differential diagnosis of congenital hyperinsulinism is consistent with PMM2-CDG, as well as several syndromes. (wikipedia.org)
- Palladino AA, Stanley CA. A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. (springer.com)
- Accuracy of PET/CT scan in the diagnosis of the focal form of congenital hyperinsulinism. (springer.com)
- 4-6 mg/kg/min in older infants) strongly suggests a diagnosis of hyperinsulinism over other etiologies of hypoglycemia. (renalandurologynews.com)
- The diagnosis of hyperinsulinism is best made by a provocative fasting test to elicit the development of hypoglycemia. (renalandurologynews.com)
- In this study, researchers will test the possibility of using PET with F-DOPA in the diagnosis of children with hyperinsulinism. (clinicaltrials.gov)
- This course will provide clinicians with a comprehensive review of the etiology, diagnosis, and treatment options for children with congenital hyperinsulinism. (chop.edu)
- Dr. Paul Thornton, Director of the Hyperinsulinism Center at Cook Children's Medical Center and one of the world's leaders in HI research and clinical work, spoke about the importance of raising awareness of the condition emphasizing the importance of early diagnosis. (congenitalhi.org)
- Diagnosis of self-induced hyperinsulinism in an insulin-dependent diabetic patient by radioimmunoassay of free C-peptide. (aaccjnls.org)
- Her diagnosis was Hyperinsulinism" Dr Ella Kumirova, Anastassia's Palliative Care Doctor. (littlestars.tv)
- Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. (elsevier.com)
- These guidelines cover a range of aspects, including general features of congenital hyperinsulinism, diagnostic criteria and tools for diagnosis, first- and second-line medical treatment, criteria for and details of surgical treatment, and future perspectives. (elsevier.com)
- Molecular diagnosis allows for prediction of responsiveness to medical treatment and likelihood of surgically-curable focal hyperinsulinism. (cdc.gov)
Genes2
- Her interests include analysing genotype/phenotype relationships and employing next generation sequencing technologies to search for novel hyperinsulinism genes ( University profile ). (hyperinsulinismgenes.org)
- Prof Khalid Hussain is the lead clinician on the hyperinsulinism genes research project. (hyperinsulinismgenes.org)
Pancreas4
- For children with congenital hyperinsulinism (CHI), low blood sugar is caused by cells in the pancreas that release too much insulin. (clinicaltrials.gov)
- Children diagnosed with hyperinsulinism who have had partial pancreas removal but still display signs of hyperinsulinism. (clinicaltrials.gov)
- In case of hyperinsulinism caused by a mosaic, our experience suggests the benefit of a limited resection from the tail to the body of the pancreas. (naver.com)
- Hyperinsulinism can be caused by diffuse disease affecting the whole pancreas, or by a focal lesion. (uchicago.edu)
Pancreatectomy9
- Genetic screening is now available within a useful time frame for some of the specific conditions.It is worthwhile to identify the minority of severe cases with focal forms of hyperinsulinism because these can be completely cured by partial pancreatectomy. (wikipedia.org)
- A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. (springer.com)
- Adzick NS, Thornton PS, Stanley CA, Kaye RD, Ruchelli E. A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. (springer.com)
- Because congenital hyperinsulinism may be caused either by diffuse involvement of pancreatic β-cells or by a focal cluster of abnormal β-cells, the extent of pancreatectomy varies. (aappublications.org)
- 2 , 3 , 5 , 6 However, almost 80% of neonates with congenital hyperinsulinism fail to respond to medical treatment and require near-total pancreatectomy. (aappublications.org)
- Ten had HCM, all of whom required pancreatectomy and eight of whom had confirmed ATP-sensitive potassium-hyperinsulinism. (bmj.com)
- Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. (naver.com)
- However, cases of focal hyperinsulinism can be treated effectively with partial pancreatectomy. (elsevier.com)
- This chapter describes the focal lesions of hyperinsulinism, the pancreatectomy procedure, previous methods of determining the site of focal lesions, and the rationale for using positron emission tomography (PET) scans with 18 F-fluoro-L-DOPA. (elsevier.com)
Transient hyperinsulinism7
- Transient hyperinsulinism usually results from environmental factors such as maternal diabetes and birth asphyxia. (medscape.com)
- Infants with perinatal stress (birth asphyxia, intrauterine growth restriction, infant of diabetic mother) can have transient hyperinsulinism lasting for a few days to a few months. (renalandurologynews.com)
- Transient hyperinsulinism can occur in babies of diabetic mothers who have been exposed to maternal hyperglycaemia before birth. (hyperinsulinismgenes.org)
- Babies who have sustained perinatal asphyxia and those with intrauterine growth restriction are also at increased risk of transient hyperinsulinism. (hyperinsulinismgenes.org)
- In a few rare cases transient hyperinsulinism can result from a monogenic aetiology. (hyperinsulinismgenes.org)
- Neurodevelopmental delays in hyperinsulinism affects both forms: Permanent and transient hyperinsulinism . (heraldopenaccess.us)
- We present the clinical and biochemical features of an infant with transient hyperinsulinism associated with severe transient primary hyperlactataemia. (heraldopenaccess.us)
Glucokinase1
- Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells. (naver.com)
Endogenous1
- Endogenous hyperinsulinism was found using a prolonged fasting test. (thefreedictionary.com)
Glucose10
- An additional piece of evidence indicating hyperinsulinism is a usually high requirement for intravenous glucose to maintain adequate glucose levels, the minimum glucose required to maintain a plasma glucose above 70 mg/dl. (wikipedia.org)
- A third form of evidence suggesting hyperinsulinism is a rise of the glucose level after injection of glucagon at the time of the low glucose. (wikipedia.org)
- However, in people with congenital hyperinsulinism, insulin is secreted from beta cells regardless of the amount of glucose present in the blood. (medlineplus.gov)
- A lack of glucose in the blood results in frequent states of hypoglycemia in people with congenital hyperinsulinism. (medlineplus.gov)
- Treatment of hyperinsulinism is aimed at maintaining plasma glucose levels at greater than 70 mg/dL. (renalandurologynews.com)
- Blood samples, hyperinsulinism, glucose. (scielo.br)
- In the current study, we tested the hypothesis that Ginkgo biloba extract (GBE) prevented hyperinsulinism-induced glucose intolerance in hepatocytes. (herbs.org)
- Contribution of total and intact proinsulins to hyperinsulinism in subjects with obesity, impaired glucose tolerance or type 2 diabetes. (thefreedictionary.com)
- Congenital hyperinsulinism is a very dangerous disease, which usually occurs in infants and is often confused with epilepsy due to the convulsions caused by Hypoglycemia or low blood glucose levels. (diabetesuptodate.com)
- Diagnoses of hyperinsulinism and diabetes Type 2 were made with three hour insulin and glucose profiles during initial evaluation at the Institute (see Table below). (aliscience.org)
20172
- BERKELEY, Calif., Jan. 31, 2017 (GLOBE NEWSWIRE) -- XOMA Corporation (Nasdaq:XOMA), a leader in the discovery and development of therapeutic antibodies, announced today that it has established proof-of-concept for its product candidate 358 in congenital hyperinsulinism (CHI) and hypoglycemia post-bariatric surgery (PBS). (xoma.com)
- 2017. https://nursing.unboundmedicine.com/nursingcentral/view/Tabers-Dictionary/733435/all/hyperinsulinism. (unboundmedicine.com)
Pancreatic6
- Pancreatic venous samplings in infants and children with primary hyperinsulinism. (springer.com)
- Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism. (springer.com)
- Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism. (springer.com)
- Acquired hyperinsulinism due to pancreatic insulinoma or ingestion of antidiabetic drugs should be considered with new onset of hyperinsulinism in older children. (renalandurologynews.com)
- Infants with congenital hyperinsulinism may have either focal or diffuse abnormalities of the pancreatic β cells. (elsevier.com)
- Specific treatment such as cortisol replacement and pancreatic surgery may be required for endocrine causes of hypoglycaemia, such as adrenal insufficiency and congenital hyperinsulinism. (bmj.com)
Cause of persistent hypoglycemia3
- Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. (nih.gov)
- Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. (cdc.gov)
- Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and it is a major cause of neurological damage with high rates of neurodevelopmental deficits. (heraldopenaccess.us)
Somatostatin agonists for hyperinsulinism1
- The Company is also developing other oral somatostatin agonists for hyperinsulinism and neuroendocrine tumors, as well as an oral nonpeptide ACTH antagonist for the treatment of Cushing's disease. (healthintelli.com)
Perioperative Management of Hyperinsulinism1
- Lord K., Duran M., Rintoul N. (2019) Perioperative Management of Hyperinsulinism. (springer.com)
Severe9
- Milder forms have occasionally been detected by investigation of family members of infants with severe forms, adults with the mildest degrees of congenital hyperinsulinism have a decreased tolerance for prolonged fasting. (wikipedia.org)
- Erythroblastosis fetalis: Neonates with severe Rh isoimmunization have islet cell hyperplasia and hyperinsulinism. (medscape.com)
- Discussion HCM appears common in infants with severe hyperinsulinism. (bmj.com)
- Of the nearly 67,000 patients each year that undergo the Roux-en-Y method of bariatric surgery, approximately five percent will develop severe hypoglycemia. (xoma.com)
- Dr Bin Sabt told Gulf News that congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycaemia in newborns and children. (thefreedictionary.com)
- Here we report a female newborn, low weight birth and small for gestational age that presented a severe hypoglycemia two hours after birth whose cause was a hyperinsulinism associated a severe hyperlactataemia and where both (hyperinsulinism and hyperlactataemia) were transient. (heraldopenaccess.us)
- Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism. (cdc.gov)
- Congenital hyperinsulinism (CHI) is a rare but severe disorder of hypoglycemia in children, often complicated by brain injury. (cdc.gov)
- Severe hyperinsulinism, rather than nasogastric tube feeding or medications, is the main factor associated with FPs. (cdc.gov)
Hypoglycaemia1
- Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. (biomedcentral.com)
Clinical5
- Clinical features of hyperinsulinism may include large for gestational age (LGA) birth weight, small for gestational age (SGA) birth weight, and perinatal stress (maternal toxemia, birth asphyxia, infant of diabetic mother). (renalandurologynews.com)
- The Hyperinsulinism centre at Great Ormond Street Hospital has a specialist multi-disciplinary team of clinicians, surgeons, nurse specialists, clinical psychologist, researchers, dietician, speech and language therapist, social work and service coordinator. (gosh.nhs.uk)
- This patient presented the usual clinical picture associated with hyperinsulinism. (annals.org)
- I proposed my Oxygen Model of Insulin Toxicity as a unifying model that recognizes disturbances of oxygen functions as the fundamental commonality of all elements that cause dysfunctional insulin signaling, hyperinsulinism (excess insulin), insulin resistance (inability of the insulin receptor to respond to insulin), and the biochemical and clinical consequences of insulin dysfunction. (aliscience.org)
- Congenital hyperinsulinism is the most common cause of persistent low blood sugars in infants and children and often leads to serious neurologic complications," said Brian Roberts, M.D., head of clinical development at Rezolute. (rezolutebio.com)
Form of Hyperinsulinism2
- To replace Sandostatine® in three daily subcutaneous injections by a single intramuscular injection of Sandostatine® LP per month in patients with a diffuse form of hyperinsulinism. (clinicaltrials.gov)
- In this study, researchers affiliated with the University of Pennsylvania will test how well a radioactive drug (called F-DOPA) can detect a form of hyperinsulinism that may be cured by surgery. (clinicaltrials.gov)
Types of hyperinsulinism2
- However, that was only a temporary fix, so Colton, his mother and twin brother were transported Jan. 31 by air ambulance to the Congenital Hyperinsulinism Center at the Children's Hospital in Philadelphia, one of the few places worldwide that specialize in identifying various types of hyperinsulinism and performing corrective surgery. (tbo.com)
- There are two types of hyperinsulinism: focal and diffuse. (chop.edu)
Neonates with hyperinsulinism1
- HCM has been reported in a few neonates with hyperinsulinism, but its extent and risk factors for its development have not been evaluated. (bmj.com)
Children with hyperinsulinism2
- Many infants and children with hyperinsulinism have a genetic disorder of insulin regulation, which can be recessive, dominant, or sporadic. (renalandurologynews.com)
- Children with hyperinsulinism are at risk for feeding disorders. (chop.edu)
Hyperinsulinemia or Hyperinsulinism1
- Hyperinsulinemia or Hyperinsulinism is a condition that refers to high blood insulin levels. (diabetesuptodate.com)
Treatment of congenital3
- Adzick NS, DeLeon DD, States LJ, Lord K, Bhatti TA, Becker SA, Stanley CA. Surgical treatment of Congenital Hyperinsulinism: Results from 500 pancreatectomies in neonates and children. (springer.com)
- Actively involved in the treatment of congenital hyperinsulinism at the international level, Dr. Thornton and our specialty medical team work with other renowned physicians, researchers and specialists to continually improve the care and treatment of children with HI. (cookchildrens.org)
- The studies proposed here are important to further the development of exendin-(9-39) for the treatment of congenital hyperinsulinism by providing measurements of effect, safety and PK/PD profile of this peptide. (grantome.com)
Diabetes3
- Acute hyperinsulinism raises plasma interleukin-6 in both non diabetic and type 2 diabetes mellitus subjects, and this effect is inversely associated with body mass index. (thefreedictionary.com)
- Ana is part of the monogenic diabetes team assisting in the genetic testing service for Maturity onset Diabetes of the Young (MODY) and congenital hyperinsulinism. (hyperinsulinismgenes.org)
- Control of hyperinsulinism and reversal of diabetes was achieved in four years (data presented in the table below. (aliscience.org)
Diffuse form1
- Surgery does not cure the diffuse form of congenital hyperinsulinism but can help prevent hypoglycemia and brain damage. (springer.com)
Glutamate dehydrogenase1
- Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. (thefreedictionary.com)
Newborns3
- Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. (medlineplus.gov)
- Prolonged hyperinsulinism in infants who are SGA and asphyxiated newborns: Infants who are SGA, experience maternal toxemia, or have birth asphyxia are at increased risk for developing hypoglycemia. (medscape.com)
- Newborns admitted with hyperinsulinism are cared for in our dedicated pod with access to the most current medical technology, a full team of physicians, nurses and specialists who are recognized around the world for their specific expertise in hyperinsulinism. (cookchildrens.org)
Neonate1
- Hyperinsulinism in the neonate. (springer.com)
Surgery5
- Surgery can be curative, especially in focal hyperinsulinism, but it requires referral to a center with special expertise. (renalandurologynews.com)
- Children with congenital hyperinsulinism (CHI) have low blood sugar, and some of these children may require surgery. (clinicaltrials.gov)
- Children diagnosed with hyperinsulinism who have failed other non-surgical interventions and will be scheduled for surgery. (clinicaltrials.gov)
- The ability of FDOPA PET to identify forms of hyperinsulinism that may be cured by surgery: focal forms. (clinicaltrials.gov)
- Where there is some organic cause for hyperinsulinism, surgery may be required to eliminate it. (thefreedictionary.com)
Deficiency2
- Hyperinsulinism Due to Hnf1a Deficiency, is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency . (malacards.org)
- Other diseases of connection to Ashkenazi Jews are Familial Hyperinsulinism , Joubert Syndrome Type 2, Lipoamide Dehydrogenase Deficiency (E3), Nemaline Myopathy, Spinal Muscular Atrophy (SMA), Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome. (thefreedictionary.com)
Acanthosis nigricans1
- To investigate the ovarian activity before and after gonadal suppression with GnRH-analog in patients with PCO, hyperandrogenism, hyperinsulinism and acanthosis nigricans. (scielo.br)
Islet1
- Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism. (springer.com)
Familial1
- Familial focal congenital hyperinsulinism. (nih.gov)