Related Experiment Video

Updated: Apr 29, 2026

Biochemical Measurement of Neonatal Hypoxia

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Permanent neonatal diabetes mellitus in Jordan

Mousa A Abujbara, Mohammed I Liswi, Mohammed S El-Khateeb

Journal of Pediatric Endocrinology & Metabolism : JPEM

|May 15, 2014

Abstract

Objective:

Permanent neonatal diabetes mellitus (PNDM) is a rare heterogeneous form of diabetes that develops within the first 6 months of life. The objective of this study is to define the genetic etiology and incidence of permanent neonatal diabetes mellitus in Jordan.

Methods:

This study was conducted in Jordan at the National Center of Diabetes, Endocrinology and Genetics, Amman, between 2006 and 2012. The study included 22 cases diagnosed with diabetes within the first year of life.

Results:

The incidence of PNDM in Jordan was calculated as one case for every 203,221 live births. Mutations were found in six out of ten cases diagnosed before 6 months and included one homozygous ABCC8 p.R826W mutation, three cases with a heterozygous KCNJ11 p.R201C mutation, and two cases with a homozygous EIF2AK3 splicing mutation.

Conclusion:

The genetic etiology of PNDM in Jordan is different from that seen in European countries and more similar to other Arab countries.

More Related Videos

Effective Isolation of Functional Islets from Neonatal Mouse Pancreas

Effective Isolation of Functional Islets from Neonatal Mouse Pancreas

Published on: January 6, 2017

Transcutaneous Microcirculatory Imaging in Preterm Neonates

Transcutaneous Microcirculatory Imaging in Preterm Neonates

Published on: December 31, 2015

Related Concept Videos

Pathophysiology of Diabetes

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...

Diabetes Mellitus: Type 2 and Gestational

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...

Diabetes Mellitus: Introduction

Diabetes Mellitus: Introduction

Diabetes mellitus consists of chronic metabolic disorders characterized by persistent hyperglycemia. This elevated blood glucose results from defects in insulin secretion, impaired insulin action, or both. Insulin, produced by pancreatic β-cells, is essential for maintaining glucose homeostasis by facilitating cellular glucose uptake for energy or storage. Disruptions in insulin production or function lead to glucose accumulation in the bloodstream, causing the clinical features and...

Diabetes Mellitus: Overview and Type I Subtype

Diabetes Mellitus: Overview and Type I Subtype

Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Type II Diabetes I: Introduction

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...

Articles linked to this work by shared authors, journal, and citation graph.

Dual phenotype in a patient with adult-onset hyperinsulinism and diabetes caused by an activating MAFA variant.

Journal of the Endocrine Society·2026

Birth prevalence and characterisation of congenital hyperinsulinism in Western Australia over two decades.

Journal of pediatric endocrinology & metabolism : JPEM·2026

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.

EBioMedicine·2026

Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.

EBioMedicine·2026

Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.

Journal of the Endocrine Society·2026

Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.

Journal of medical genetics·2026

See all related articles