Results 41 to 50 of about 14,238 (246)

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

European Journal of Endocrinology, 2021
Objective Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition.
Thomas I. Hewat, D. Yau, Joseph C S Jerome, T. Laver, J. Houghton, B. Shields, S. Flanagan, K. Patel   +7 more
semanticscholar   +1 more source

Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model.

PLoS ONE, 2020
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 ...
Mangala M Soundarapandian, Christine A Juliana, Jinghua Chai, Patrick A Haslett, Kevin Fitzgerald, Diva D De León   +5 more
doaj   +1 more source

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Human Mutation, 2020
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP‐sensitive potassium channel, a key component of the glucose‐stimulated insulin secretion ...
E. De Franco, C. Saint-Martin, K. Brusgaard, Amy E. Knight Johnson, Lydia Aguilar-Bryan, Pamela Bowman, J. Arnoux, Annette Rønholt Larsen, May Sanyoura, S. A. W. Greeley, Raúl Calzada-León, Bradley Harman, J. Houghton, Elisa Nishimura-Meguro, T. Laver, Sian Ellard, D. del Gaudio, Henrik Thybo Christesen, C. Bellanné-Chantelot, Sarah E. Flanagan   +19 more
semanticscholar   +1 more source

Neonatal Hyperinsulinism [PDF]

Trends in Endocrinology & Metabolism, 1999
Hypoglycemia as a result of hyperinsulinism in the newborn (HI) is a clinically heterogeneous entity that presents a diagnostic and therapeutic challenge to the treating physician. Recent discoveries have shown that mutations in four different beta-cell genes cause HI.
, Glaser, , Landau, , Permutt
openaire   +4 more sources

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

Orphanet Journal of Rare Diseases, 2021
Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI.
Wei Zhang, Yan-Mei Sang
doaj   +1 more source

Health-Related Quality of Life of Children and Adolescents With Congenital Hyperinsulinism – A Scoping Review

Frontiers in Endocrinology, 2021
IntroductionDespite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment.
Kaja Kristensen, Julia Quitmann, Stefanie Witt   +2 more
doaj   +1 more source

Management and appropriate use of diazoxide in infants and children with hyperinsulinism.

Journal of Clinical Endocrinology and Metabolism, 2020
BACKGROUND The diagnosis of hypoglycemia and the use of diazoxide have risen in the last decade. Diazoxide is the only FDA-approved pharmacologic treatment for neonatal hypoglycemia caused by hyperinsulinism (HI).
P. Brar, Ryan Heksch, K. Cossen, Diva D. De León, M. Kamboj, Seth D. Marks, B. Marshall, Ryan Miller, Laura C. Page, T. Stanley, Deborah M Mitchell, P. Thornton   +11 more
semanticscholar   +1 more source

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

JCRPE, 2022
INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG.
Doğuş Vurallı, Yılmaz Yıldız, Alev Ozon, Ali Dursun, Nazlı Gönç, Ayşegül Tokatlı, H. Serap Sivri, Ayfer Alikaşifoğlu   +7 more
doaj   +1 more source

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

Frontiers in Endocrinology, 2019
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia.
S. Galcheva, H. Demirbilek, S. Al-Khawaga, K. Hussain   +3 more
semanticscholar   +1 more source

Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism

BMJ Open Diabetes Research & Care
Introduction Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. Current models to study the most common and severe form of HI resulting from inactivating mutations in the ATP-sensitive potassium channel (KATP) are
Diva D De León, Christine A Juliana, Joshua Benjet   +2 more
doaj   +1 more source