Metabolic Disorders

Metabolic Disorders

Metabolic Disorders
Metabolic disorders disrupt the body's ability to make or break down carbohydrates, proteins and fats in food. When the body has too much or too little of these substances, major health problems can develop. Metabolic disorders are usually genetic, and the severity can vary. In some cases, dietary supplements, medications and special diets can help treat the disorder.

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    A Pediatrics, answered on behalf of
    Dehydration occurs when the body loses more water and salts than it takes in. The body naturally loses water daily through sweat, tears, breathing, urine and stool. In a healthy person, this water is replaced by drinking fluids and eating foods that contain water. When you become so sick with fever, diarrhea or vomiting, or are overexposed to the sun and do not drink enough water, dehydration occurs. Whatever the cause, dehydration should be treated as soon as possible.
     
    It is important to take steps to avoid dehydration.
    • Drink plenty of fluids (especially when playing in the sun).
    • Schedule outdoor activities during cooler times of the day.
    • Drink appropriate fluids to help maintain the body's electrolyte balance.
    In addition to dehydration, strenuous or prolonged activity during the hottest times of the day can lead to heat exhaustion or heatstroke.
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    A , Endocrinology Diabetes & Metabolism, answered
    Familial hypocalciuric hypercalcemia (FHH) is a hereditary condition of parathyroid gland sensing. The parathyroid glands in this condition do not properly sense blood calcium levels and secrete excess parathyroid hormone (PTH) even when the blood calcium level is normal. This results in a rise in the blood calcium. This is a true form of hyperparathyroidism, but it tends to be relatively benign, with only mild elevation of the blood calcium and relatively few long-term complications. The hallmark of the condition is an unusually low urine calcium excretion, typically less than 50 mg of calcium in the urine in 24 hours. The condition is not always hereditary -- there are non-familial cases as well. Measurement of urine calcium excretion is an important part of the evaluation of someone with a high blood calcium level, both to exclude FHH as a diagnosis and to determine if the person is at high risk of kidney stones, which might prompt one to recommend surgery.  
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    Hypokalemia is not usually caused by a diet deficient in potassium. Commonly, too much potassium is lost through urination or through the digestive system due to diuretics (water pills) that cause water containing potassium to be expelled in the urine; diarrhea or vomiting; overuse of laxatives; kidney disease; bulimia and other eating disorders; adrenal gland diseases such as Cushings syndrome; and some antibiotics. Hypokalemia can result in kidney damage if the body is deficient in potassium for a long period of time.

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    Inherited metabolic disorders are the result of a genetic mutation, which makes prevention virtually impossible. The gene defect responsible for inherited metabolic disorders usually passes from both parents to their child, although some are linked to the X chromosome and may be passed from a mother to her children (boys will be affected most strongly). Family members of patients with inherited metabolic disorders can receive genetic testing to determine if they may be carriers of the disorder, too.
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    A , Pharmacy, answered
    Hypokalemia is a potassium level that's too low. Potassium is needed for normal bodily functions, especially for nerves and muscles. Some medications, like diuretics that cause frequent urination, can contribute to low potassium levels. Also, low potassium can be triggered by diarrhea from illness or from taking too many laxatives. Because the kidneys help keep a normal balance of potassium in the body, kidney disorders can affect potassium levels. Excess vomiting due to illness or bulimia can also cause hypokalemia.

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    Porphyria is a term that refers to a group of disorders-the porphyrias-that affect the nervous system or skin, or both. Each type of porphyria is due to the deficiency of one of the enzymes needed to make a substance called heme in the body. Enzymes are proteins that bring about certain chemical reactions in the body. The production of heme involves a series of eight different enzymes, each acting in turn.

    Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the blood and bone marrow in the form of hemoglobin within red blood cells. Hemoglobin gives blood its red color and carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that have many functions, including breaking down hormones, drugs, and other chemicals and generating high-energy compounds that keep the liver cells alive and functioning normally.

    The body makes heme mainly in the bone marrow and the liver. The process of heme production is called the heme biosynthetic pathway. Each step of the process is controlled by one of eight enzymes. If any one of the enzymes is deficient, the process is disrupted. As a result, porphyrin or its precursors?chemicals formed at earlier steps of the process?may build up in body tissues and cause illness.

    This answer is based on source information from the National Institute of Diabetes and Digestive and Kidney Diseases.

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    Most cases of hyperkalemia are emergencies that require hospitalization of individuals until their condition has stabilized, so it is likely that you will not have an appointment to diagnose it. Information regarding your personal and family health history is helpful including acute or chronic kidney disease, diabetes, high blood pressure, disorders of the nervous system or muscles, problems with the adrenal glands, medications taken, and injuries.

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    A , Cardiology (Cardiovascular Disease), answered
    Treatment for porphyria depends on the particular type of the condition you have. The term porphyria refers to a group of disorders caused by problems with how your body makes heme, an iron-containing chemical that makes blood look red. Some types of porphyria affect the body's nervous system. Other types, cutaneous porphyrias, cause skin symptoms such as itching, swelling, and blistering, usually in the presence of sunlight. Depending on the type of porphyria you have, your doctor may treat it by encouraging you to avoid the triggers of the disease or using intravenous heme therapy and medication to relieve symptoms.
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    Symptoms of hypokalemia are usually not detectable unless potassium levels in the blood reach dangerously low levels. Symptoms of this condition include abnormal beating of the heart, constipation, tiredness, weak muscles, rhabdomyolysis (muscle breakdown), and paralysis that can affect the lungs. Some of these symptoms appear more quickly in individuals with heart disease.

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    Depending on the type of mucolipidoses disease that a person has, it may affect them differently as they age. Children born with MLI (sialidosis) typically die in their first year, while those with MLII may die before age seven. It is common for those with MLIII to be diagnosed during the preschool years. Those with sialidosis type I (juvenile sialidosis) exhibit symptoms after age ten and can live into their forties or fifties. Children who have MLIV often fail to develop their language or movement skills beyond those of a toddler and can lose all vision by their teen years.