Results 81 to 90 of about 245,105 (180)

Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature

, 2006
Background: Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage.
Heike Rabe (4461271), E Wilichowski (16296500), A Pekrun (16296503), J R F Alvarez (16296497)   +3 more
core   +2 more sources

A tale of two sisters – delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and
F Stringer, C Preston, R MacIsaac, F Inchley, L Rivera-Woll, S Farrell, Sachithanandan   +6 more
doaj   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Exercise-induced hyperinsulinism: genetic basis and clinical management

中国当代儿科杂志
Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1.
ZHANG Qi-Ting, HOU Ling
doaj   +1 more source

Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Septo‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms. SOD can be diagnosed at different time points—from the prenatal period to childhood. Our team cared
Yuan Rui Leon Tan, Xiaoao Dong, Ngee Lek, Suresh Chandran, Odattil Geetha   +4 more
wiley   +1 more source

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source

Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene

, 2014
Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the
Kurt, ABDULLAH, Flanagan, Sarah E., Sahin, Nursel Muratoglu, Ecevit, Ayse, Hussain, Khalid, Ince, Deniz Anuk, Kinik, Sibel Tulgar, Tarcan, Aylin   +7 more
core   +1 more source

A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism

, 2012
A new disease?
Brusgaard, Klaus, Melikyan, M, Christesen, Henrik Thybo, Ditkovskaya, L   +3 more
core   +3 more sources

Flow diagram showing the outcomes of referrals for genetic testing for congenital hyperinsulinism.

, 2020
Flow diagram showing the outcomes of referrals for genetic testing for congenital hyperinsulinism.
Antonia Dastamani (8415387), Tim Cheetham (8415396), Sian Ellard (25182), Talat Mushtaq (8415399), Sarah E. Flanagan (8415405), Jayne A. L. Houghton (8415390), Indraneel Banerjee (3479855), Pratik Shah (281059), Ritika R. Kapoor (8415402), Tabitha Randell (3479864), Senthil Senniappan (566043), Guftar Shaikh (8415393), Daphne Yau (8415381), Thomas W. Laver (8415384)   +13 more
core   +1 more source

Birth weight percentiles in infants with neonatal-onset prolonged neonatal hypoglycemia and persistent congenital hyperinsulinism

Journal of Perinatal Medicine
Prolonged neonatal hypoglycemia eventually resolving spontaneously is linked to perinatal stress, whereas persistent congenital hyperinsulinism is caused by genetic alterations leading to dysregulated insulin secretion.
Zurebiani Nino, Bührer Christoph, Blankenstein Oliver, Groffmann Maximilian, Heckmann Matthias, Braune Katarina   +5 more
doaj   +1 more source