Metabolic disorder

Extracted Attributes

• Risk Factors

  High blood pressure, obesity, and insulin resistance (Metabolic Syndrome)

• Primary Causes

  Genetic mutations (inherited), organ dysfunction, and mitochondrial dysfunction

• Common Symptoms

  Lethargy, weight loss or gain, jaundice, seizures, and nausea

• US Diabetes Prevalence

  11.3% of the population (approximately 37.3 million people)

• Affected Macronutrients

  Proteins, fats, and carbohydrates

• Inherited Disorder Frequency

  Affects approximately 1 in 1,000 to 2,500 newborns

Timeline

• Publication of 'Inherited Metabolic Diseases: A Clinical Approach' by Hoffmann, Zschocke, and Nyhan, detailing clinical approaches to genetic metabolic conditions. (Source: Wikipedia)

  2009-11-21

• The American Association of Clinical Endocrinologists and the Obesity Society co-sponsor clinical practice guidelines for the prevention and treatment of metabolic and endocrine diseases in adults. (Source: Wikipedia)

  2013-09-01

Metabolic disorder

A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.

Web Search Results

• Metabolic disorders: Types, causes, and symptoms

  # What to know about metabolic disorders Metabolic disorders are conditions that affect any aspect of metabolism. Examples of metabolic disorders include diabetes, Gaucher’s disease, and hemochromatosis. Symptoms can include tiredness, weight loss or gain, and nausea and vomiting. Metabolism is a term that describes the biochemical processes that allow people to grow, reproduce, repair damage, and respond to their environment. A metabolic disorder is a condition that impairs these processes. For example, it could affect the availability of enzymes for breaking down food or how efficiently cells can produce energy. The disorders include a range of conditions that cause different symptoms and complications within the body. [...] For example, type 1 diabetes requires daily insulin shots to manage blood glucose levels. People with type 2 diabetes may need a combination of medicines and lifestyle changes, such as diet and exercise. ## When to see a doctor Metabolic disorders can become serious without treatment. Experts may recommend seeing a doctor if a person is: ## Summary Metabolic disorders affect some aspects of metabolism, which can result in a range of symptoms or complications. They typically occur due to the body producing too much or too little of a substance. Genetic mutations affecting biochemical processes are the cause of many metabolic disorders. [...] Metabolic disorders can have a wide range of impacts on the body. This means that doctors may use several different medical tests to identify the problem. Some conditions, such as Gaucher’s disease, have such a range of symptoms that it can take longer for doctors to diagnose them. However, a diagnosis will typically involve a blood test. For example, doctors may use a blood test to check for abnormal blood glucose levels, which are a sign of diabetes. ## Treatment options Metabolic disorders have a wide range of treatments depending on the cause. Many of these conditions are genetic or currently without a cure. This means that a person could require lifelong medications or need to make lifestyle changes to manage their symptoms.

• Metabolic Disorders: Symptoms & Causes - NewYork-Presbyterian

  Common causes of metabolic disorders are: Genetics: Metabolic disorders are caused by genetic defects commonly inherited from both parents. Gaucher's disease and phenylketonuria (PKU) are examples of inherited metabolic disorders. Organ dysfunction: When someone experiences organ dysfunction, the organs involved in metabolism don't function properly. Organs involved in metabolism include the gut (large intestine), liver, adipose tissue, pancreas, kidney, and muscles. With diabetes, for example, the pancreas doesn't make enough insulin to balance blood glucose levels. Mitochondrial dysfunction: Mitochondria are the parts of a cell that produce energy for the body. Mutations of the mitochondria affect how well the mitochondria do their job of making energy. [...] Types of Metabolic Disorders Genetic mutations cause hundreds of genetic metabolic disorders passed down from generation to generation. The most common metabolic disorders are: [...] Metabolic syndrome refers to a cluster of metabolic abnormalities such as high blood pressure, obesity, and insulin resistance. Metabolic syndrome increases the risk of developing diabetes, stroke, and cardiovascular disease (CVD). ## Signs & Symptoms of Metabolic Disorders Symptoms Metabolic disorders are diverse; symptoms can vary and affect many aspects of the body's functions. Common symptoms of metabolic disorder include: Tiredness Muscle weakness Unexpected weight gain or loss Changes in skin color Stomach pain Nausea or vomiting Reduced appetite Developmental problems in babies and infants Symptoms associated with metabolic disorders can be frustrating and disrupt many aspects of your life. Fortunately, specialists at NewYork-Presbyterian can help treat the symptoms.

• Metabolic disorder - Wikipedia

  A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive "Dominance (genetics)"). ## Signs and symptoms [edit] Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. ## Causes [edit] See also: Inborn error of metabolism [...] Gonzalez-Campoy JM, St Jeor ST, Castorino K, Ebrahim A, Hurley D, Jovanovic L, Mechanick JI, Petak SM, Yu YH, Harris KA, Kris-Etherton P, Kushner R, Molini-Blandford M, Nguyen QT, Plodkowski R, Sarwer DB, Thomas KT, American Association of Clinical Endocrinologists, American College of Endocrinology and the Obesity Society (September–October 2013). "Clinical practice guidelines for healthy eating for the prevention and treatment of metabolic and endocrine diseases in adults: cosponsored by the American Association of Clinical Endocrinologists/the American College of Endocrinology and the Obesity Society". Endocr Pract. 19 (Suppl 3): 1–82. doi "Doi (identifier)"):10.4158/EP13155.GL. PMID "PMID (identifier)") 24129260. [...] Hoffmann, Georg F.; Zschocke, Johannes; Nyhan, William L. (21 November 2009). Inherited Metabolic Diseases: A Clinical Approach. Springer. ISBN "ISBN (identifier)") 9783540747239.

• Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  Reduce or eliminate intake of any food or drug that can’t be metabolized properly. Replace the enzyme or other chemical that is missing or inactive to restore metabolism to as close to normal as possible. Remove toxic products of metabolism that build up due to the metabolic disorder. Treatment may include such measures as: Following special diets that cut out certain nutrients Taking enzyme replacements or other supplements that support metabolism Treating the blood with chemicals to detoxify dangerous metabolic by-products Whenever possible, a person with an inherited metabolic disorder should get care at a medical center experienced with these rare conditions. [...] Each inherited metabolic disorder is very rare in the general population. But considered together, inherited metabolic disorders may affect about 1 in 1,000 to 2,500 newborns. In certain ethnic populations, such as in Ashkenazi Jews with central and eastern European ancestry, the rate of inherited metabolic disorders is higher. ## Types of Inherited Metabolic Disorders Hundreds of inherited metabolic disorders have been identified, and new ones continue to be discovered. Some of the more common and important genetic metabolic disorders include: Lysosomal storage disorders . Lysosomes are spaces inside cells that break down waste products of metabolism. Various enzyme deficiencies inside lysosomes can result in buildup of toxic substances, causing metabolic disorders including: [...] Metabolism is an organized but chaotic chemical assembly line. Raw materials, half-finished products, and waste materials are constantly being used, produced, transported, and excreted. The “workers” on the assembly line are enzymes and other proteins that make chemical reactions happen. An inherited metabolic disorder messes up the works, disrupting the assembly line. The consequences can be very bad. These disorders affect “the breakdown or synthesis of proteins, lipids and sugars essential for the normal function of our body,” says Eva Morava, MD, PhD, the director of the Inherited Metabolic Diseases Program at the Icahn School of Medicine at Mount Sinai in New York City, NY. “Untreated, these disorders can lead to multiorgan failure and death.”

• Common Metabolic Disorders: Condition Types, Symptoms - Pfizer

  Pfizer logo ## DC_Desktop_Banner_1440X600.jpg # Metabolic Disorders Overview An overview of metabolic disorders, also known as metabolic conditions, that disrupt the process by which the body converts food into energy. A healthy metabolism, the process by which the body converts food into energy, is an essential part of living a healthy life. Metabolic disorders, also known as metabolic conditions, disrupt that vital mechanism.1 Metabolic disorders can arise when chemical reactions in the body do not occur as usual. Metabolic disorders can form when organs like the pancreas or liver do not work properly.1 This is the case with diabetes,1 a metabolic disorder that affects 37.3 million people in the U.S., or 11.3% of the population.2 ### What are metabolic disorders? [...] ### What are metabolic disorders? When we eat food, we ingest combinations of proteins, fats, and carbohydrates. Metabolism turns these nutrients into energy, in the form of sugars, fatty acids and glycerol, and amino acids.3 Depending on a person’s needs, the body can be adaptive. It can store energy in fat, muscle, or even the liver if a person doesn’t need the energy right away. The body can also use food energy immediately.1 A metabolic disorder could cause the body to produce too many or too few of the hormones involved in metabolism.1 In some cases, a genetic abnormality may be the cause. Fortunately, the body can tolerate some variance and error in the metabolic process, but a disruption to an important part of metabolism may trigger disease.4