Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro
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DOI: 10.1002/jimd.12309
Abstract: Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as recessive HADH mutations cause congenital… read more here.
Keywords: functional evaluation; missense variants; evaluation schad; hyperinsulinism infancy ... See more keywords
Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children.
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DOI: 10.1016/j.jpedsurg.2018.10.030
Abstract: BACKGROUND Congenital Hyperinsulinism (HI) causes severe hypoglycemia in neonates and children. We reviewed our experience with pancreatectomy for the various types of HI. METHODS From 1998 to 2018, 500 patients with HI underwent pancreatectomy: 246… read more here.
Keywords: surgical treatment; congenital hyperinsulinism; neonates children; treatment congenital ... See more keywords
Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism
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DOI: 10.1111/cen.14152
Abstract: Congenital Hyperinsulinism (CHI) is a rare disease of hypoglycaemia but is the most common form of recurrent and severe hypoglycaemia causing brain injury and neurodisability in children. The management of CHI is complex due to… read more here.
Keywords: congenital hyperinsulinism; complexities medical; medical management; hypoglycaemia ... See more keywords
Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017–2018): Congenital hyperinsulinism, insulinoma, non‐insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata’s disease)
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DOI: 10.1111/jdi.13180
Abstract: We aimed to investigate the nationwide incidence, treatment details and outcomes of patients with endogenous hyperinsulinemic hypoglycemia (EHH), including those with transient/persistent congenital hyperinsulinism (CHI), insulinoma, non‐insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata’s… read more here.
Keywords: non insulinoma; hypoglycemia; endogenous hyperinsulinemic; insulinoma non ... See more keywords
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism
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DOI: 10.1159/000485184
Abstract: Background/Aims: Congenital hyperinsulinism (CHI) is a rare disease characterized by recurrent severe hypoglycemia. In the diffuse form of CHI, pharmacotherapy is the preferred choice of treatment. Long-acting somatostatin analogues have been used in children as… read more here.
Keywords: long acting; experience long; acting somatostatin; congenital hyperinsulinism ... See more keywords
Congenital Hyperinsulinism: An Historical Perspective
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DOI: 10.1159/000526442
Abstract: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, infants, and children. Since the first case descriptions in the 1950s, the field has advanced significantly. It was the development of the insulin… read more here.
Keywords: congenital hyperinsulinism; development; hyperinsulinism; historical perspective ... See more keywords
New Tools for Congenital Hyperinsulinism
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DOI: 10.1177/00099228211013648
Abstract: Congenital hyperinsulinism (CHI) is the most common cause of severe persistent hypoglycemia in infants with an estimated incidence of 1 in 50 000 live births.1 Treatment of CHI includes medical, surgical, or combined therapies: oral… read more here.
Keywords: hyperinsulinism; new tools; congenital hyperinsulinism; tools congenital ... See more keywords
Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective
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DOI: 10.1210/jendso/bvac033
Abstract: Abstract Context In focal congenital hyperinsulinism (CHI), localized clonal expansion of pancreatic β-cells causes excess insulin secretion and severe hypoglycemia. Surgery is curative, but not all lesions are amenable to surgery. Objective We describe surgical… read more here.
Keywords: congenital hyperinsulinism; surgery; outcomes focal; hypoglycemia ... See more keywords
SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
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DOI: 10.1210/js.2019-sun-270
Abstract: Abstract ABCC8 encodes the SUR-1 subunit of the ATP-sensitive potassium (K-ATP) channel on beta cells. Mutations in this gene are associated with K-ATP channel gain of function (diabetes mellitus) and loss of function (hyperinsulinism). We… read more here.
Keywords: onset diabetes; hyperinsulinism; adult onset; diabetes mellitus ... See more keywords
Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model
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DOI: 10.1371/journal.pone.0236892
Abstract: There is a significant unmet need for a safe and effective therapy for the treatment of children with congenital hyperinsulinism. We hypothesized that amplification of the glucagon signaling pathway could ameliorate hyperinsulinism associated hypoglycemia. In… read more here.
Keywords: associated hypoglycemia; hypoglycemia; congenital hyperinsulinism; hyperinsulinism associated ... See more keywords
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism
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DOI: 10.1515/jpem-2016-0229
Abstract: Abstract Background: Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia and brain damage. Therapeutic strategies to avoid near total pancreatectomy in patients who are unresponsive to maximum doses of diazoxide and octreotide remain… read more here.
Keywords: infants diffuse; treatment; three infants; sirolimus ... See more keywords