Results 1 to 10 of about 7,729 (170)

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene. [PDF]

Clin Case Rep
This patient was admitted to the hospital 43 h after birth with convulsions and hypoglycemia, presenting as recurrent refractory hypoglycemia that was difficult to control with conventional medication. Whole exome sequencing detected the GLUD1 (NM_005271.3:c.1495G>T, p.Gly499Cys) variant, which was a de novo variant in the patient and was not detected ...
Li T, Liu T, Li L, Liu Y, Zhang Q, Cheng X, Li Z.   +6 more
europepmc   +2 more sources

Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive ...
Ryan L Smith, Stephen I Stone
doaj   +2 more sources

Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders [PDF]

Frontiers in Endocrinology
Over the past several years, research and technologies involving patient-derived induced pluripotent stem cells (iPSCs) have rapidly advanced, enabling the study of various disease pathologies, including rare pathologies like monogenic disorders of beta ...
Lily Deng, Mansa Krishnamurthy
doaj   +2 more sources

Severe transient neonatal hyperinsulinism: First Peruvian case series [PDF]

SAGE Open Medical Case Reports
Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza, Francesca Bermudez-Paredes, Isabel Milagros Arauco-Carhuas   +2 more
doaj   +2 more sources

Congenital hyperinsulinism

Medicina (Lithuania), 2014
Hyperinsulinism is the most common cause of hypoglycemia in infants. In many cases conservative treatment is not effective and surgical intervention is required. Differentiation between diffuse and focal forms and localization of focal lesions are the most important issues in preoperative management.
Gilvydas Verkauskas, Rasa Verkauskienė, Giedrius Barauskas   +2 more
exaly   +4 more sources

Case Report: The importance of genetic counseling for families with hyperinsulinism

Frontiers in Pediatrics
Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Tricia Bhatti, Stateslj Statesl, De Leon Dd   +2 more
exaly   +3 more sources

Case Report: Food-based enteral formula in the nutritional management of children with hyperinsulinism: single center retrospective case series [PDF]

Frontiers in Endocrinology
ContextHyperinsulinism is characterized by dysregulated insulin secretion and is typically associated with reduced fasting tolerance. Long-term hyperinsulinism management includes nutrition and medication to normalize plasma glucose levels. Management of
Graeme O’Connor, Lauren Cheng, Annaruby Cunjamalay   +2 more
doaj   +2 more sources

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series [PDF]

Journal of Medical Case Reports
Background Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism–hyperammonemia syndrome, results from activating mutations in the GLUD1 ...
Miral M. Abdulghfar, Afaf Alsagheir, Ismail A. Abdullah, Raghad Alhuthil   +3 more
doaj   +2 more sources

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA) [PDF]

JIMD Reports
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
doaj   +2 more sources

Recurrent Hypoglycemia in Two Late‐Preterm Infants With Transitional Disorder of Glucose Mobilization—Case Series [PDF]

Clinical Case Reports
Great emphasis is placed upon addressing hyperinsulinism in at‐risk infants with recurrent hypoglycemia. We report two preterm infants with recurrent nonhyperinsulinemic hypoglycemia due to transient impairment of glucose mobilization, warranting ...
Suresh Chandran, Yu Shan Ting, Skanthakumar Abhirami, Fabian Yap   +3 more
doaj   +2 more sources