Neonatal diabetes mellitus: an update on diagnosis and management

MB Lemelman, L Letourneau, SAW Greeley - Clinics in perinatology, 2018 - Elsevier
Diabetes mellitus most commonly occurs after the neonatal period and results from complex
interactions between both environmental and incompletely penetrant genetic factors …

Precision treatment of beta-cell monogenic diabetes: a systematic review

RN Naylor, KA Patel, JLT Kettunen… - Communications …, 2024 - nature.com
Background Beta-cell monogenic forms of diabetes have strong support for precision
medicine. We systematically analyzed evidence for precision treatments for GCK-related …

GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated

D Carmody, RN Naylor, CD Bell, S Berry… - Acta …, 2016 - Springer
Aims GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. It
has been described in all ethnicities, but mainly in Caucasian Europeans. Here we describe …

Recent advances in neonatal diabetes

A Dahl, S Kumar - Diabetes, Metabolic Syndrome and Obesity, 2020 - Taylor & Francis
Neonatal diabetes mellitus (DM) is defined by the onset of persistent hyperglycemia within
the first six months of life but may present up to 12 months of life. A gene mutation affecting …

Personalized Therapeutics for KATP-Dependent Pathologies

CG Nichols - Annual review of pharmacology and toxicology, 2023 - annualreviews.org
Ubiquitously expressed throughout the body, ATP-sensitive potassium (KATP) channels
couple cellular metabolism to electrical activity in multiple tissues; their unique assembly as …

Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes

BW Thurber, D Carmody, EC Tadie, AN Pastore… - Diabetologia, 2015 - Springer
Aims/hypothesis Individuals with heterozygous activating mutations of the KCNJ11 gene
encoding a subunit of the ATP-sensitive potassium channel (KATP) can usually be treated …

Genetic causes and treatment of neonatal diabetes and early childhood diabetes

F Barbetti, G D'Annunzio - Best Practice & Research Clinical Endocrinology …, 2018 - Elsevier
Diabetes mellitus and impaired fasting glucose associated with single gene mutations are
less rare than previously thought and may account for more than 6% of patients attending a …

Role of actionable genes in pursuing a true approach of precision medicine in monogenic diabetes

A Marucci, I Rutigliano, G Fini, S Pezzilli, C Menzaghi… - Genes, 2022 - mdpi.com
Monogenic diabetes is a genetic disorder caused by one or more variations in a single
gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal …

Neonatal diabetes mellitus

J Beltrand, K Busiah, L Vaivre-Douret, AL Fauret… - Frontiers in …, 2020 - frontiersin.org
Neonatal Diabetes (ND) mellitus is a rare genetic disease (1 in 90,000 live births). It is
defined by the presence of severe hyperglycaemia associated with insufficient or no …

Glucose homeostasis in newborns: an endocrinology perspective

E Tas, L Garibaldi, R Muzumdar - Neoreviews, 2020 - publications.aap.org
Physiologic adaptations in the postnatal period, along with gradual establishment of enteral
feeding, help maintain plasma glucose concentrations in the neonatal period. The definition …