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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    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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    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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    Hyperkalemia is a life-threatening condition that can sometimes be prevented. Acute and chronic kidney disease are the most common causes of too much potassium in the blood. Individuals receiving dialysis can help prevent the buildup of too much potassium in the blood by adhering to their scheduled treatment times. Alcohol and recreational drugs can damage the kidneys and raise the risk for hyperkalemia. Close monitoring of medications and regular blood tests to check for kidney function and potassium levels in the blood will help prevent the condition. Avoid the overuse of potassium supplements and foods high in potassium. Individuals with diabetes should control their condition to avoid acidosis, which results in too much potassium in the blood. Injuries can damage the kidney and lead to hyperkalemia, so use basic safety precautions when engaging in risky activities.

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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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    Hypercalcemia can interfere with muscle function, affecting the heart muscle and causing death. Hypercalcemia can interfere with nervous system function, causing delirium, hallucinations, confusion, emotional imbalance, and coma. Hypercalcemia can lead to kidney stones and kidney damage. Talk to your doctor about your symptoms.

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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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    When acid-base metabolic disorders occur, the body will naturally try to return the blood pH balance as close to normal as possible. This process is called compensation. The body usually cannot return the blood pH completely back to normal, but it will not overcompensate. Compensated acid-base disorders have mild symptoms or no symptoms.