The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Type 1 diabetes mellitus is predominantly a disease of the young, usually developing before 20 years of age. Overall, type I DM makes up approximately 15% of all cases of diabetes. It develops in approximately 1 in 600 children and is one of the most common chronic diseases in children. The incidence is relatively low for children under the age of 5, increases between 5 and 15, and then tapers off.
There are many complications of diabetes. Knowing and understanding the signs of these complications is important. If caught early, some of these complications can be treated and prevented from getting worse. The best way to prevent complications of diabetes is to keep your blood sugars in good control. High glucose levels produce changes in the blood vessels themselves, as well as in blood cells (primarily erythrocytes) that impair blood flow to various organs.
When your blood sugar is out of whack, you just don’t feel well, says Cypress, and might become more short-tempered. In fact, high blood sugar can mimic depression-like symptoms. “You feel very tired, you don’t feel like doing anything, you don’t want to go out, you just want to sleep,” Cypress says. She’ll see patients who think they need to be treated for depression, but then experience mood improvement after their blood sugar normalizes.
A1C: Your A1C, also called glycated hemoglobin, reflects your average blood glucose levels for the past 2 to 3 months. If your A1C is 6.5% or greater, your doctor may diagnose diabetes. If your A1C is between 6.0% and 6.4%, your doctor may diagnose prediabetes. Of note, A1C cannot be used to diagnose type 1 diabetes, diabetes in children, adolescents, or pregnant women.
People with diabetes can benefit from education about the disease and treatment, good nutrition to achieve a normal body weight, and exercise, with the goal of keeping both short-term and long-term blood glucose levels within acceptable bounds. In addition, given the associated higher risks of cardiovascular disease, lifestyle modifications are recommended to control blood pressure.
When it comes to diabetes, there's no real answer yet. Yes, science has begun to uncover the roots of this disease, unearthing a complex interplay of genes and environment—and a lot more unanswered questions. Meanwhile, there's plenty of misinformation to go around. (How often have you had to explain that diabetes doesn't happen because someone "ate too much"?)
The problem with sugar, regardless of type, is the sheer amount of it that’s found in the Standard American Diet (SAD), which is the typical eating plan many people in the United States — as well as those in an increasing number of modernized countries — have developed a taste for. When consumed in excess, foods in this category can lead to heart disease, stroke, and other serious health issues. “Often, foods with added sugar also contain fat,” explains Grieger, noting that these components go hand in hand when it comes to the risk for insulin resistance, the hallmark of type 2 diabetes.
Apart from these medications, treating diabetes effectively means taking a well-rounded approach: You’ll need to eat well, exercise, and manage stress, because all these factors can affect your blood sugar levels. Staying healthy with diabetes also requires caring for yourself — like protecting your feet, practicing oral hygiene, and tending to your mental health.
Dr. May currently works as a fulltime endocrinologist and has been in private practice since 2004. He has a variety of interests, predominantly obesity and diabetes, but also sees patients with osteoporosis, thyroid disorders, men's health disorders, pituitary and adrenal disorders, polycystic ovaries, and disorders of growth. He is a leading member of several obesity and diabetes societies and runs a trial centre for new drugs.
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Every cell in the human body needs energy in order to function. The body's primary energy source is glucose, a simple sugar resulting from the digestion of foods containing carbohydrates (sugars and starches). Glucose from the digested food circulates in the blood as a ready energy source for any cells that need it. Insulin is a hormone or chemical produced by cells in the pancreas, an organ located behind the stomach. Insulin bonds to a receptor site on the outside of cell and acts like a key to open a doorway into the cell through which glucose can enter. Some of the glucose can be converted to concentrated energy sources like glycogen or fatty acids and saved for later use. When there is not enough insulin produced or when the doorway no longer recognizes the insulin key, glucose stays in the blood rather entering the cells.
Sugary breath isn’t as sweet as it seems. Diabetics often notice that they’ve developed sweet or nail-polish-like breath before they’re diagnosed. However, if you’re dealing with this strange symptom, time is of the essence. Sweet breath is often a sign of diabetic ketoacidosis, a condition in which your body can’t effectively convert glucose into energy, keeping your blood sugar at dangerous—potentially fatal—levels if untreated.
There is an overall lack of public awareness of the signs and symptoms of type 1 diabetes. Making yourself aware of the signs and symptoms of type 1 diabetes is a great way to be proactive about your health and the health of your family members. If you notice any of these signs or symptoms, it’s possible that you have (or your child has) type 1 diabetes. A doctor can make that diagnosis by checking blood glucose levels.
Type 2 diabetes (formerly named non-insulin-dependent) which results from the body's inability to respond properly to the action of insulin produced by the pancreas. Type 2 diabetes is much more common and accounts for around 90% of all diabetes cases worldwide. It occurs most frequently in adults, but is being noted increasingly in adolescents as well.
When you have Type 2 diabetes, you may start out with something called insulin resistance. This means your cells do not respond well to the insulin you are making. "Insulin levels may be quite high, especially in the early stages of the disease. Eventually, your pancreas may not be able to keep up, and insulin secretion goes down," Rettinger explains. Insulin resistance becomes more common as you put on more weight, especially weight around your belly.
Damage to small blood vessels can affect the eyes, kidneys, and nerves. Damage to eyes, specifically the retina, is called diabetic retinopathy and is the leading cause of blindness. Damage to the kidneys, called diabetic nephropathy, can lead to kidney failure and the need for dialysis. Damage to the nerves that supply the legs and arms and gastrointestinal tract is called diabetic neuropathy. Some people with diabetes who develop peripheral neuropathy (damage to the nerves in the legs) and have poor blood flow to the legs may eventually need an amputation.
A chronic metabolic disorder marked by hyperglycemia. DM results either from failure of the pancreas to produce insulin (type 1 DM) or from insulin resistance, with inadequate insulin secretion to sustain normal metabolism (type 2 DM). Either type of DM may damage blood vessels, nerves, kidneys, the retina, and the developing fetus and the placenta during pregnancy. Type 1 or insulin-dependent DM has a prevalence of just 0.3 to 0.4%. Type 2 DM (formerly called adult-onset DM) has a prevalence in the general population of 6.6%. In some populations (such as older persons, Native Americans, African Americans, Pacific Islanders, Mexican Americans), it is present in nearly 20% of adults. Type 2 DM primarily affects obese middle-aged people with sedentary lifestyles, whereas type 1 DM usually occurs in children, most of whom are active and thin, although extremely obese children are now being diagnosed with type 2 diabetes as well. See: table; dawn phenomenon; insulin; insulin pump; insulin resistance; diabetic polyneuropathy; Somogyi phenomenon
Poor vision, limited manual dexterity due to arthritis, tremor, or stroke, or other physical limitations may make monitoring blood glucose levels more difficult for older people. However, special monitors are available. Some have large numerical displays that are easier to read. Some provide audible instructions and results. Some monitors read blood glucose levels through the skin and do not require a blood sample. People can consult a diabetes educator to determine which meter is most appropriate.
The typical symptoms of diabetes mellitus are the three “polys:” polyuria, polydipsia, and polyphagia. Because of insulin deficiency, the assimilation and storage of glucose in muscle adipose tissues, and the liver is greatly diminished. This produces an accumulation of glucose in the blood and creates an increase in its osmolarity. In response to this increased osmotic pressure there is depletion of intracellular water and osmotic diuresis. The water loss creates intense thirst and increased urination. The increased appetite (polyphagia) is not as clearly understood. It may be the result of the body's effort to increase its supply of energy foods even though eating more carbohydrates in the absence of sufficient insulin does not meet the energy needs of the cells.
A study by Dabelea et al found that in teenagers and young adults in whom diabetes mellitus had been diagnosed during childhood or adolescence, diabetes-related complications and comorbidities—including diabetic kidney disease, retinopathy, and peripheral neuropathy (but not arterial stiffness or hypertension)—were more prevalent in those with type 2 diabetes than in those with type 1 disease. 
 Diabetes Prevention Program Research Group. Long-term effects of lifestyle intervention or metformin on diabetes development and microvascular complications over 15-year follow-up: the Diabetes Prevention Program Outcomes Study. The Lancet Diabetes & Endocrinology. 2015;3(11):866‒875. You can find more information about this study on the Diabetes Prevention Program Outcomes Study website.
Exposure to certain viral infections (mumps and Coxsackie viruses) or other environmental toxins may serve to trigger abnormal antibody responses that cause damage to the pancreas cells where insulin is made. Some of the antibodies seen in type 1 diabetes include anti-islet cell antibodies, anti-insulin antibodies and anti-glutamic decarboxylase antibodies. These antibodies can be detected in the majority of patients, and may help determine which individuals are at risk for developing type 1 diabetes.
Type 1 diabetes mellitus has wide geographic variation in incidence and prevalence.  Annual incidence varies from 0.61 cases per 100,000 population in China to 41.4 cases per 100,000 population in Finland. Substantial variations are observed between nearby countries with differing lifestyles, such as Estonia and Finland, and between genetically similar populations, such as those in Iceland and Norway.