Maturity-onset Diabetes In The Young (mody)
Although often misdiagnosed initially as the more common type 1 or type 2 diabetes, maturity-onset diabetes of the young (MODY) is a group of diseases characterized by inherited early-onset diabetes (usually in adolescence or early adulthood) from a single gene mutation. Severity of the diabetes symptoms associated with MODY vary depending on the type of MODY diagnosed. MODY 2 appears to be the mildest form of the disease, often only causing mild hyperglycemia and impaired glucose tolerance. MODY 1 and 3 may require treatment with insulin, much like type 1 diabetes. MODY accounts for about 1 to 5 percent of all cases of diabetes in adults in the U.S. Family members of people with MODY are at greatly increased risk for the condition. MODY should be considered when three successive generations in a family have been diagnosed with mild diabetes (not requiring insulin) before age 25 and appear neither obese nor significantly insulin-resistant. Continue reading >>
Glucagon In Mody (maturity Onset Diabetes Of The Young)
The aim of this study is to determine whether fasting and post-prandial glucagon secretion is suppressed by gliclazide in patients with HNF1-/4-alpha MODY. Participants will undergo an oral glucose tolerance test (OGTT) before and after omitting their gliclazide medication for 3 days. Study Type : Interventional (Clinical Trial) Estimated Enrollment : 10 participants Intervention Model: Single Group Assignment Masking: None (Open Label) Primary Purpose: Treatment Official Title: Investigating Glucagon Secretion in HNF1-alpha and HNF4-alpha MODY Actual Study Start Date : July 3, 2017 Estimated Primary Completion Date : October 2017 Estimated Study Completion Date : December 2017 Resource links provided by the National Library of Medicine U.S. FDA Resources Primary Outcome Measures : Change in plasma glucagon from baseline (0min) [ Time Frame: 0min, 30min, 60min, 90min and 120min during 75g oral glucose tolerance test. ] Secondary Outcome Measures : Change in plasma c-peptide from baseline (0min) [ Time Frame: 0min, 30min, 60min, 90min and 120min during 75g oral glucose tolerance test. ] Change in plasma non-esterified fatty acids (NEFA) from baseline (0min) [ Time Frame: 0min, 30min, 60min, 90min and 120min during 75g oral glucose tolerance test. ] Continuous glucose monitor recordings [ Time Frame: 12 days ] Information from the National Library of Medicine Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. Inclusion Criteria: Diagnosis of HNF1-alpha or HNF4-alpha MODY. Currently on gliclazide Continue reading >>
Comprehensive Maturity Onset Diabetes Of The Young (mody) Gene Screening In Pregnant Women With Diabetes In India
Abstract Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes. Of these subjects 18% (9/50) were positive for definite or likely pathogenic or uncertain MODY variants. The majority of these variants was identified in subjects with autosomal dominant family history, of whom five were in women with pre-GDM and four with overt-GDM. The identified variants included one patient with HNF1A Ser3Cys, two PDX1 Glu224Lys, His94Gln, two NEUROD1 Glu59Gln, Phe318Ser, one INS Gly44Arg, one GCK, one ABCC8 Arg620Cys and one BLK Val418Met variants. In addition, three of the seven offspring screened were positive for the identified variant. These identified variants were further confirmed by Sanger sequencing. In conclusion, these findings in pregnant women with diabetes, imply that a proportion of GDM patients with autosomal dominant family history may have MODY. Further NGS based comprehensive studies with larger samples are required to confirm these finding Continue reading >>
A Rare Case Of Diabetic Ketoacidosis (dka) In A Patient With Genetically Confirmed Maturity Onset Diabetes Of Young (mody)
Maturity Onset Diabetes of the Young (MODY) accounts for upto 2% of all patients with diabetes. Hepatocyte Nuclear Factor 1 alpha (HNF1-A) MODY is the most common subtype accounting for 30–70% of all MODY cases. Typically, it presents in young adults below the age of 45, frequently < 25 with autosomal dominant family history of diabetes, absence of autoimmune markers and insulin resistance and c-peptide positivity. DKA is a rare complication of MODY particularly in situations of non-compliance. We describe a case of DKA in a genetically confirmed HNF1-A MODY patient presented to our hospital. A 26-year-old female was admitted with severe vomiting. She had a background history of HNF1- alpha MODY diagnosed at the age of 15 when she was found to have hyperglycaemia during pregnancy. She was on Gliclazide 40mg daily but stopped taking it about a year ago. Her pH was 6.96, blood glucose of 31.4 mmol/L and blood Ketones of 5.8 mmol/L. This was consistent with DKA which was successfully treated. There was no evidence of sepsis. Her HbA1c was high at 101mmol/mol suggesting poor glycaemic control. She had uneventful recovery and was discharged home on Gliclazide with appropriate follow up arranged. The presence of DKA was previously considered an exclusion criterion for MODY according to the International Society for Paediatrics and Adolescent Diabetes (IPSAD) 2009 guidelines. It is presumed that patients with MODY do not develop DKA due to the presence of residual insulin production that prevents ketogenesis. However, this was withdrawn in the 2014 update due to several case reports of DKA in confirmed MODY patients. The majority of patients with genetically proven MODY are initially incorrectly diagnosed as Type 1 or Type 2 diabetes. Exclusion of DKA from the diagnostic cri Continue reading >>
What Is Maturity-onset Diabetes Of The Young?
Maturity-Onset Diabetes of the Young or MODY affects 1-2% of people with diabetes, although it often goes unrecognised. The 3 main features of MODY are: Diabetes often develops before the age of 25 Diabetes runs in families from one generation to the next Diabetes may be treated by diet or tablets and does not always need insulin treatment Why does MODY run in families? MODY runs in families because of a change in a single gene which is passed on by affected parents to their children. We call this Autosomal Dominant Inheritance. All children of an affected parent with MODY have a 50% chance of inheriting the affected gene and developing MODY themselves. Why is it important to recognise it? There are different types of MODY. By finding out which type of MODY a person has the most appropriate treatment for them can be determined. Knowing the type of MODY a person has also means we can advise them about how their diabetes will progress in the future. As it runs in families, it is important to advise other family members of their risk of inheriting it. What different types of MODY have been identified? MODY is caused by a change in a single gene. 6 genes have been identified that account for 87% of UK MODY: Changes in these different genes lead to different types of MODY. For more information about these different types of MODY please click on one of the above. There are still more genes to identify as 13% of MODY is not yet accounted for. Click here to download slides on diagnosing MODY For further information on the clinical implications of a diagnosis of MODY, the following is a useful review: Murphy R, Ellard S, Hattersley AT.Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab. 2008 Apr; 4(4):200-1 Continue reading >>
Mody: One Of The Most Easily Missed Causes Of Diabetes
Maturity onset diabetes of the young (MODY) is a type of diabetes that is often misclassified as type 1 or type 2 diabetes but is different from both.1 An accurate diagnosis of MODY is important because it enables individuals to receive the correct treatment and to be advised appropriately about the future course of their diabetes. Furthermore, there are important implications for other family members given the strong inheritance pattern of the condition.2 What is MODY ? By 1974 a picture had emerged of a milder form of diabetes that was inherited in a dominant fashion. Fajans and Tattersall introduced the term MODY, at that stage defining it as, ‘a fasting hyperglycaemia diagnosed under the age of 25 years which could be treated without insulin for at least two years’. Tattersall3 identified these characteristics of MODY: Please login or register to read the rest of the article and to have access to downloads and comments. What do you think? Leave a comment below or tweet your views to @IndyNurseMag Continue reading >>
Monogenic Diabetes (neonatal Diabetes Mellitus & Mody)
The most common forms of diabetes, type 1 and type 2, are polygenic, meaning they are related to a change, or defect, in multiple genes. Environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. Polygenic forms of diabetes often run in families. Doctors diagnose polygenic forms of diabetes by testing blood glucose, also known as blood sugar, in individuals with risk factors or symptoms of diabetes. Genes provide the instructions for making proteins within the cell. If a gene has a change or mutation, the protein may not function properly. Genetic mutations that cause diabetes affect proteins that play a role in the ability of the body to produce insulin or in the ability of insulin to lower blood glucose. People typically have two copies of most genes, with one gene inherited from each parent. What are monogenic forms of diabetes? Some rare forms of diabetes result from mutations or changes in a single gene and are called monogenic. In the United States, monogenic forms of diabetes account for about 1 to 4 percent of all cases of diabetes.1,2,3,4 In most cases of monogenic diabetes, the gene mutation is inherited from one or both parents. Sometimes the gene mutation develops spontaneously, meaning that the mutation is not carried by either of the parents. Most mutations that cause monogenic diabetes reduce the body’s ability to produce insulin, a protein produced in the pancreas that helps the body use glucose for energy. Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are the two main forms of monogenic diabetes. NDM occurs in newborns and young infants. MODY is much more common than NDM and usually first occurs in adolescence or early adulthood. Most cas Continue reading >>
Mody 2 Diabetes: An Unusual Presentation Of Diabetes
Diabetes mellitus includes a heterogeneous mix of metabolic diseases characterized by chronic hyperglycemia. The most common varieties of diabetes mellitus are Type 1 and Type 2, but there are other types. MODY diabetes (Maturity Onset Diabetes of the Young) is a clinically heterogeneous disease characterized by non-dependent insulin diabetes diagnosed early with dominant autosomal transmission and absence of auto-antibodies. It is the most frequent form of monogenic diabetes. Many patients are misclassified as Type 1 or Type 2 diabetes. In this paper, we are describing the case of a 51 year old male patient diagnosed with MODY 2 diabetes. The primary care physician should be aware of the existence of other types of Diabetes Mellitus different from the more common diabetes type 1 and type 2, and the importance of other cardiovascular risk factors such as hypercholesterolemia, hypertension or smoking. Keywords: MODY; Maturity onset diabetes of the young; Diabetes mellitus; Hyperglycemia; Polymorphism; Type 1 or Type 2 diabetes; Metabolic disease; Glycaemia; Cardiac arrest; Genes; Glicazide; Medical therapy; Encephalic Hypoxia sequelae; Pathalogical characteristics; Insulin MODY: Maturity Onset Diabetes of the Young; DM: Diabetes Mellitus; ICA: Islet-Cell Antibodies; GAD: Glutamic Acid Decarboxylase; IA-2: Insulinoma-Associated Protein 2 Diabetes mellitus includes a heterogeneous mix of metabolic diseases characterized by chronic hyperglycemia. Some forms of this illness respond to specific etiological or pathogenic characteristics, but the underlying etiology is unknown. The most common varieties of diabetes mellitus are Type 1 and Type 2, but there are other types. Numerous common polymorphisms (approximately 50 to date) weakly contribute to the risk for or protection f Continue reading >>
What Is Mody?
What is MODY? MODY is a monogenic form of diabetes that is often confused with type 1 or type 2 diabetes.1 MODY decreases the amount of insulin a person’s body makes, which in turn limits the body’s ability to control the amount of sugar (glucose) in the blood. Too much sugar in the body’s blood can damage body tissue, particularly the eyes, kidneys, nerves, and blood vessels. This means that patients who really have MODY may not know it and may not be getting the right type of treatment. What causes MODY? MODY is caused by errors, or mutations, in a single gene, and in most cases, the gene mutation is inherited from a parent. This makes MODY different from type 1 diabetes and type 2 diabetes, which are caused by changes in many genes and/or other factors such as being overweight or having high blood pressure. To date, scientists have identified eight genes that are associated with several different types of MODY. Who gets MODY? MODY usually develops during childhood or early adulthood but sometimes remains undiagnosed until later in life. Because MODY is inherited, people with MODY may have other family members with symptoms of diabetes. Over half a million people in the United States have MODY. That makes it about as common as type 1 diabetes.2 Signs and Symptoms of MODY Patients with MODY may have the typical signs and symptoms of type 1 diabetes and type 2 diabetes, like high blood sugar, being thirsty a lot, and urinating a lot. But many MODY patients do not have these symptoms. A person may have MODY if these things are true1: Has high blood sugar that was discovered before age 30 (though anyone under age 50 may have MODY) Has a close family member with diabetes, such as a parent or sibling Does not need much insulin to regulate blood sugar Is not overweight Continue reading >>
Maturity Onset Diabetes Of The Young (mody)
What Is It? Maturity Onset Diabetes of the Young (MODY) is an inherited form of diabetes mellitus. It is caused by a change in one of eleven genes. Up to 5% of all diabetes cases may be due to MODY. Just like other people with diabetes, people with MODY have trouble regulating their blood sugar levels. This disorder is more like type 1 diabetes than type 2, although it can be confused with either type. In type 1, the pancreas cannot make and release enough insulin. People with type 2 diabetes, on the other hand, usually make enough insulin, but their bodies cannot respond to it effectively (known as insulin resistance). Type 2 diabetes is usually associated with being overweight, but that is not true of type 1 diabetes or MODY. However, obesity does matter. An obese person with a MODY gene mutation may develop symptoms of diabetes sooner than someone of normal weight. Continue reading >>
21-year-old Pregnant Woman With Mody-5 Diabetes
Copyright © 2017 Anastasia Mikuscheva et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract The term “Maturity-Onset Diabetes of the Young” (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies. Correct diagnosis of monogenic diabetes has implications on managing patients and their families. We are reporting a case of a 21-year-old pregnant woman with a bicornuate uterus, fetal renal anomalies, and a family history of diabetes that were suggestive of a MODY-5 diabetes. 1. Introduction Monogenic beta-cell diabetes is thought to be responsible for approximately 2% of all diabetes cases diagnosed before the age of 45 years [1]. Approximately 80% of cases are misdiagnosed as either type 1 or type 2 diabetes, reflecting lack of physician awareness and/or access to genetic testing [2]. Clues to the diagnosis of monogenic forms of diabetes include lack of typical characteristics of type 1 diabetes (no pancreatic autoantibodies, low or no insulin requirement five years after diagnosis, persistence of stimulated C-peptide of 4200 pmol/L, absence of diabetic ketoacidosis) or type 2 diabetes (lack of obesity, hypertension, dyslipidemia), in the presence of a strong family history [1]. Renal cysts Continue reading >>
Medical Definition Of Maturity Onset Diabetes Of The Young
Medical Definition of Maturity onset diabetes of the young Maturity onset diabetes of the young: Diabetes mellitus that has early onset (usually before the age of 25), is non- insulin -dependent, and is inherited in an autosomal dominant manner. Abbreviated MODY. MODY is often considered a subtype of type 2 diabetes but it is unlike the usual type 2 diabetes in that insulin secretion, not the action of insulin, is impaired. There is no problem with insulin sensitivity. MODY accounts for 2-5% of all non-insulin-dependent diabetes. There are a number of forms of MODY which are called MODY1, MODY2, and so on: MODY1 is caused by mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A) on chromosome 20. MODY2 is caused by mutation in the glucokinase gene (GCK) on chromosome 7. MODY3 is caused by mutation in the hepatic transcription factor-1 gene (TCF1) on chromosome 12q24.2. MODY4 is caused by mutation in the insulin promoter factor-1 gene (IPF1) on chromosome 13q12.1. MODY5 is caused by mutation in the gene encoding hepatic transcription factor-2 (TCF2) on chromosome 17cen-q21.3. MODY6 is caused by mutation in the gene encoding neurogenic differentiation 1 (NEUROD1) on chromosome 2q32. Note that genes for MODY are on at least 6 different chromosomes. But two forms, MODY1 and MODY3, are due to mutations in genes that encode hepatocyte nuclear factors (HNF) -- transcription factors that govern the expression of other genes. Continue reading >>
Endocrinology And Diabetes
Maturity onset diabetes of the young (MODY) is a form of diabetes caused by a mutation in a single gene (monogenic) that leads to elevated blood glucose levels. It accounts for 2-4% of all diabetes cases, and is a genetic disease. Diagnosis of monogenic diabetes is important, as treatment varies depending on the affected gene. Patients with specific genetic alterations may respond well to specific oral medications or not need therapy at all. Risk Factors for MODY Patients with three or more of the following characteristics may be at risk of having MODY. These include: Diagnosis of diabetes under the age of 25 Normal weight or overweight at the time of diagnosis (Body Mass Index [BMI] less than 30) A child of a parent diagnosed with MODY has a 50% chance of also having MODY Lack of high blood pressure and high cholesterol It is estimated up to 80% of people with MODY may be misclassified at type 1 or type 2 diabetes, therefore, a person with diabetes or prediabetes with one of the following characteristics may want to consider further evaluation: Diagnosed with diabetes under the age of 35 with a parent or child with diabetes Diagnosed with diabetes under the age of 1 (Neonatal Diabetes) Diagnosed with type 1 diabetes and has a parent or child with type 1 diabetes Diagnosed with type 2 diabetes under the age of 30 Diagnosed with type 2 diabetes before the age of 45 with two or more first or second-degree relatives diagnosed with Type 2 diabetes before the age of 50. Diagnosed with gestational diabetes but has persistent elevated blood glucose after delivery Family member with monogenic diabetes Symptoms and Diagnosis of MODY Like other forms of diabetes, people with MODY may or may not have symptoms of high blood glucose. Some symptoms of high blood glucose are observed Continue reading >>
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Diagnosis And Management Of Maturity Onset Diabetes Of The Young (mody)
One to two per cent of cases of diabetes have a monogenic cause but delayed diagnosis and misdiagnosis as type 1 and type 2 diabetes are common Mutations in the glucokinase (GCK), hepatocyte nuclear factor 1α (HNF1A), and hepatocyte nuclear factor 4α (HNF4A) genes are the most common causes of maturity onset diabetes of the young (MODY) Diagnostic and predictive genetic tests for the common causes of MODY are available Consider a diagnosis of MODY in patients with diabetes whose features are atypical of their diagnostic label A diagnosis of MODY has important clinical implications for patients and their families Insulin and oral hypoglycaemic agents can usually be stopped in patients with GCK-MODY, and sulfonylureas are the optimal treatment in HNF1A/HNF4A-MODY Maturity onset diabetes of the young (MODY) comprises a heterogeneous group of monogenic disorders characterised by β cell dysfunction. It is estimated to be the underlying cause of diabetes in 1-2% of patients diagnosed with diabetes, but prevalence estimates will not be accurate until large population screening studies are performed.1 It is important to distinguish MODY from type 1 and type 2 diabetes because optimal treatments are different. Furthermore, first degree relatives have a 50% probability of inheriting the same mutation, which confers a greater than 95% lifetime risk of developing diabetes.2 Distinguishing people who have rare forms of diabetes such as MODY from those with type 1 or type 2 diabetes is a diagnostic challenge because clinical features are similar. In this review we discuss when the general physician might suspect MODY and how to identify which patients with diabetes should be offered genetic testing. We focus on the recognition of the common forms of MODY in people diagnosed with d Continue reading >>
What Is Maturity-onset Diabetes Of The Young (mody)?
MODY is a monogenic form of diabetes that usually first occurs during adolescence or early adulthood. However, MODY sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of… the pancreas to produce insulin. This process leads to the high blood glucose levels characteristic of diabetes and, in time, may damage body tissues, particularly the eyes, kidneys, nerves, and blood vessels. MODY accounts for about 1 to 5 percent of all cases of diabetes in the United States. Family members of people with MODY are at greatly increased risk for the condition. Each child of a parent with MODY has a 50 percent chance of inheriting the disease. People with MODY may have only mild or no symptoms of diabetes and their hyperglycemia may only be discovered during routine blood tests. MODY may be confused with type 1 or type 2 diabetes. People with MODY are generally not overweight and do not have other risk factors for type 2 diabetes, such as high blood pressure or abnormal blood fat levels. While both type 2 diabetes and MODY can run in families, people with MODY typically have a family history of diabetes in multiple successive generations, meaning that MODY is present in a grandparent, a parent, and a child. Unlike people with type 1 diabetes who always require insulin, people with MODY can often be treated with oral diabetes medications. Treatment varies depending on the genetic mutation that has caused the MODY. Other articles in Special Edition: Uncommon Diabetes Diagnoses: What is Monogenic Diabetes? Many times misdiagnosed! Case Study: Lilly Jaffe What is neonatal diabetes mellitus (NDM)? What to know about genetic testing and counseling Continue reading >>
