Cargando…

Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

CONTEXT AND OBJECTIVE: Recessive mutations in the hydroxyacyl-CoA dehydrogenase (HADH) gene encoding the enzyme 3-hydroxyacyl-CoA dehydrogenase are a rare cause of diazoxide-responsive hyperinsulinemic hypoglycemia (HH) with just five probands reported to date. HADH deficiency in the first three ide...

Descripción completa

Detalles Bibliográficos
Autores principales:	Flanagan, Sarah E., Patch, Ann-Marie, Locke, Jonathan M., Akcay, Teoman, Simsek, Enver, Alaei, Mohammadreza, Yekta, Zeinab, Desai, Meena, Kapoor, Ritika R., Hussain, Khalid, Ellard, Sian
Formato:	Texto
Lenguaje:	English
Publicado:	Endocrine Society 2011
Materias:	JCEM Online: Brief Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100671/ https://www.ncbi.nlm.nih.gov/pubmed/21252247 http://dx.doi.org/10.1210/jc.2010-1906

Ejemplares similares

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
por: Flanagan, S E, et al.
Publicado: (2010)

Diazoxide for Neonatal Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension
por: Newman-Lindsay, Shoshana, et al.
Publicado: (2022)

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
por: Çamtosun, Emine, et al.
Publicado: (2015)

Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis
por: Chen, Xiaohong, et al.
Publicado: (2021)

MON-073 Hyperinsulinemic Hypoglycemia Responsive to Diazoxide Due to a Previously Unknown ABCC8 Dominant Mutation
por: Figueredo, Veronica M, et al.
Publicado: (2020)

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia
por: Haliloğlu, Belma, et al.
Publicado: (2018)

Hyperinsulinemic Hypoglycemia – The Molecular Mechanisms
por: Nessa, Azizun, et al.
Publicado: (2016)

Safety and effectiveness, including intelligence prognosis, of diazoxide in pediatric patients with hyperinsulinemic hypoglycemia: special survey in Japan (long-term, all-case survey)
por: Fukutomi, Miwa, et al.
Publicado: (2018)

Comment on persistent hyperinsulinemic hypoglycemia of infancy
por: Prashanth, G. P., et al.
Publicado: (2013)

Hyperinsulinemic Hypoglycemia after Bariatric Surgery
por: Hu, Songhao, et al.
Publicado: (2020)

Expanding the Clinical Spectrum Associated With GLIS3 Mutations
por: Dimitri, P., et al.
Publicado: (2015)

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management
por: Gϋemes, Maria, et al.
Publicado: (2020)

Genomic Runs of Homozygosity Record Population History and Consanguinity
por: Kirin, Mirna, et al.
Publicado: (2010)

Management Challenges in a Child with Hyperinsulinemic Hypoglycemia
por: Chaturvedi, Deepti, et al.
Publicado: (2008)

Hyperinsulinemic Hypoglycemia Syndrome in 2 Dogs with Bartonellosis
por: Breitschwerdt, E.B., et al.
Publicado: (2014)

Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey
por: Şıklar, Zeynep, et al.
Publicado: (2016)

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
por: Hopkins, Jasmin J, et al.
Publicado: (2022)

Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study
por: Maria, Güemes, et al.
Publicado: (2019)

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
por: Heslegrave, Amanda J, et al.
Publicado: (2012)

Necrotizing enterocolitis following diazoxide therapy for persistent neonatal hypoglycemia
por: Theodorou, Christina M., et al.
Publicado: (2019)

Altered Serum Amino Acid and Acylcarnitine Profiles in Hyperinsulinemic Hypoglycemia and Ketotic Hypoglycemia
por: Xu, Zhen-Ran, et al.
Publicado: (2020)

Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts
por: Goel, Prabudh, et al.
Publicado: (2012)

Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management
por: Lord, Katherine, et al.
Publicado: (2013)

Hyperinsulinemic Hypoglycemia: Experience in A Series of 17 Cases
por: Yılmaz Ağladıoğlu, Sebahat, et al.
Publicado: (2013)

Clinical Features and Causes of Endogenous Hyperinsulinemic Hypoglycemia in Korea
por: Woo, Chang-Yun, et al.
Publicado: (2015)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
por: Mısırlıgil, Mina, et al.
Publicado: (2021)

Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
por: Kim, Jee-Min, et al.
Publicado: (2021)

Hyperinsulinemic hypoglycemia in adolescents: case report and systematic review
por: Castillo-López, M. G., et al.
Publicado: (2022)

Endogenous hyperinsulinemic hypoglycemia: case series and literature review
por: Zhang, Chenyang, et al.
Publicado: (2022)

Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia
por: Flanagan, S. E., et al.
Publicado: (2011)

Reclassification of Diabetes Etiology in a Family With Multiple Diabetes Phenotypes
por: Kavvoura, Fotini K., et al.
Publicado: (2014)

Pulmonary hypertension occurring with diazoxide use in a preterm infant with hypoglycemia
por: Kylat, Ranjit I
Publicado: (2019)

Diazoxide for the Treatment of Hypoglycemia Resulting From Dumping Syndrome in a Child
por: Mejia-Otero, Juan D, et al.
Publicado: (2019)

Hypoglycemia in a Non-diabetic Patient and the Side Effects of Diazoxide Use
por: Brito, Patrícia C, et al.
Publicado: (2023)

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
por: Hernández-Ramírez, Laura C., et al.
Publicado: (2015)

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
por: Kamphans, Tom, et al.
Publicado: (2013)

A study on nesidioblastosis in hyperinsulinemic hypoglycemia--diagnosis, treatment, and neurologic sequelae.
por: Han, H. S., et al.
Publicado: (1990)

Hyperinsulinemic hypoglycemia associated with insulin antibodies caused by exogenous insulin analog
por: Su, Chih-Ting, et al.
Publicado: (2016)

“Riding High on Low Fuel” - Our Experience with Endogenous Hyperinsulinemic Hypoglycemia
por: Manjunath, P. R., et al.
Publicado: (2017)

Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia
por: Geilswijk, Marianne, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_j5hrd3u6uirjikpuac258m5luk