Metabolic diseases

Type 2 diabetes

Key facts Type 2 diabetes develops when the body does not make enough insulin or it does not respond to it effectively. You need insulin to process the glucose in your food to give you energy. Symptoms include feeling tired, hungry or thirsty, and passing more urine. Lack of physical activity, being overweight and a poor diet increase the risk of type 2 diabetes. Keeping active, with a healthy diet and weight, can help prevent or delay it.   What is type 2 diabetes? Type 2 diabetes develops when the body does not use insulin efficiently and gradually loses the

Type 1 diabetes

Key facts Diabetes is a condition that occurs when the body cannot maintain healthy levels of sugar (glucose) in the blood. Type 1 diabetes is diabetes caused by the immune system attacking and destroying the cells in the pancreas that normally produce insulin. If you develop type 1 diabetes, you will experience symptoms of high blood sugar (hyperglycaemia) including thirst, frequent urination, unexplained weight loss and fatigue. Type 1 diabetes cannot be cured but it can be managed with insulin injections and maintaining a healthy lifestyle.   What is type 1 diabetes? Diabetes is a condition that occurs when the body

Tay-Sachs disease

What is Tay-Sachs disease? Tay-Sachs disease is a genetic disorder that causes permanent brain damage. Tay-Sachs disease is more common in people of Ashkenazi Jewish heritage, a group of people whose heritage is from central and eastern Europe. About 1 in 25 members of this community carry the gene for Tay-Sachs disease. What are the types of Tay-Sachs disease? There are 2 main types of Tay-Sachs disease — the infantile form, which is far more common, and the late-onset form. What are the symptoms of Tay-Sachs disease? Children with Tay-Sachs disease are healthy when they are born but start developing

Phenylketonuria (PKU)

Key facts Phenylketonuria is a rare, treatable, inherited disorder. All babies born in Australia are screened for PKU. Babies diagnosed with PKU will develop normally in every way, as long as they keep to a strict, low-protein diet all their life. If you have PKU, eating a regular diet containing protein will cause damage to your brain. What is Phenylketonuria (PKU)? Phenylketonuria (PKU) is a rare, treatable disorder where your body cannot break down foods containing protein. If you have PKU, having a regular diet that contains protein will cause damage to your brain. What causes PKU? PKU is an inherited condition caused

Porphyria

Key facts Porphyria is a group of diseases caused by problems with red blood cells that lead to a build-up in the body of chemicals called porphyrins. Porphyria is uncommon, and is divided into 2 categories — acute porphyria, which affects the neurological (nerve) system and cutaneous porphyria, which affects the skin. Porphyria is usually inherited, but can also occur without anyone else in the family having it. Because porphyria can cause so many different symptoms, it can be hard to diagnose. Porphyria can’t be cured, but there are many ways to manage and treat it.   What is porphyria?

Hypothyroidism

Key facts Hypothyroidism (underactive thyroid) occurs when the thyroid gland does not make enough thyroid hormone. Symptoms vary, but can include fatigue, weight gain, heavy periods or sensitivity to the cold. The most common cause of hypothyroidism in Australia is the autoimmune disease, Hashimoto’s disease. Your doctor will diagnose hypothyroidism after referring you for a blood test. Hypothyroidism is often treated with a synthetic version of the hormone thyroxine. What is hypothyroidism (underactive thyroid)? Hypothyroidism (underactive thyroid) is a medical condition where the thyroid gland does not make enough thyroid hormone for normal body function. The thyroid gland is located in the

Hyperthyroidism

Key facts The thyroid is a gland in the neck, near the base of the throat, that helps control some of your body’s metabolic processes. Hyperthyroidism (sometimes called thyrotoxicosis or overactive thyroid) is when your thyroid gland is overactive. The most common symptoms of hyperthyroidism are feeling anxious or nervous, being unable to tolerate heat, having heart palpitations, feeling tired and losing weight. To diagnose hyperthyroidism, your doctor will examine you and send you for a blood test to measure the levels of your thyroid hormones. Hyperthyroidism can be treated with medications, radioactive iodine therapy or surgery. What is my

Hashimoto’s disease

What is Hashimoto’s disease? Hashimoto’s disease is an autoimmune condition. In Hashimoto’s disease, your body’s immune system attacks your thyroid gland, preventing it from producing enough thyroid hormone. In rare cases, Hashimoto’s disease can cause you to produce too much thyroid hormone. Your thyroid gland is a bow-shaped gland near the base of your throat. This gland produces thyroid hormones. These hormones influence important body processes such as body temperature, energy levels and growth. Thyroid hormones are important for your metabolism. Low thyroid hormone levels may cause a range of symptoms, such as tiredness, weight gain and intolerance to cold temperatures. What are the symptoms of

Haemochromatosis

What is haemochromatosis? Haemochromatosis is an inherited condition that causes the body to absorb and store too much iron. In some cases of haemochromatosis, the extra iron can lead to organ damage. In people with haemochromatosis, too much iron is absorbed from the gut, leading to iron overload. The human body controls iron levels by absorbing just the right amount of iron from food. It has no method of excreting excess iron — any excess is stored in organs and joints in the body. This can lead to damage to the liver, heart, pancreas, thyroid and other organs. What are

Fabry disease

What is Fabry disease? Fabry disease is a rare genetic condition with many different symptoms that often begin in childhood. Treatments are available to help manage the symptoms Fabry disease is a genetic disorder that belongs to a group of diseases known as lysosomal storage diseases. If you have Fabry disease, you don’t have enough of an enzyme that’s needed to break down a certain type of fat in your cells. (An enzyme is a chemical, produced within the body, that helps this process to occur.) As a result, the fat builds up in your body, causing a range of symptoms. Fabry