What Is Metabolic Therapy?

Diseases caused by the accumulation or deficiency of certain metabolic substances such as sugar, fat, protein, purine, calcium and copper when obstacles occur in the biochemical process in the body. Symptoms vary, and diagnosis depends on clinical manifestations and biochemical tests such as blood and urine. There is no effective cure, mainly to eliminate the cause and symptomatic treatment. The prognosis depends on the cause, the severity of the symptoms, and the effectiveness of the treatment.

Metabolic disease

Biochemistry in the body

The etiology of metabolic diseases can be divided into congenital factors and acquired factors;

Congenital genetic defects are one of the main causes of metabolic diseases. For example, the tissue cells of patients with familial homozygous hypercholesterolemia completely lack the low-density lipoprotein receptor, so that the cholesterol carried by the low-density lipoprotein cannot be metabolized by the receptor pathway, and the plasma cholesterol rises significantly, reaching 13 to 26mmol / L (500-1000 mg / dl). The tissue cells of patients with familial heterozygous hypercholesterolemia have half the LDL receptor equivalent to that of normal people. Cholesterol can be partially metabolized by the receptor, and the plasma cholesterol increases moderately, mostly 7.8 to 13 mmol / L (300 ~ 500 mg / dl). Mucolipidosis is a genetic disorder of lysosomal dysfunction that mainly affects connective tissue, glomeruli, and tubular epithelium. Its symptoms and

Visceral pathological changes and dysfunction are also important causes of metabolic diseases. For example, renal failure can cause metabolic changes in proteins, fats, water and electrolytes. Patients with nephrotic syndrome may lose protein from urine for a long time and may appear; the glomerular filtration rate is reduced, and nitrogen metabolites are not easily excreted. Phosphoric acid, sulfuric acid, uric acid, creatinine, and urea nitrogen are accumulated in the blood, causing azotemia and metabolism. Acidosis; disorders of excretion of water and potassium, causing edema and hyperkalemia; etc. When suffering from nephrotic syndrome, very low-density lipoprotein and low-density lipoprotein clearance disorders can also occur, raising plasma cholesterol and triglycerides Hyperlipoproteinemia occurs; in renal failure, blood phosphorus rises, blood calcium decreases, and 25-hydroxyvitamin D cannot be hydroxylated in the kidney to 1,25-dihydroxyvitamin D, secondary secretion of parathyroid hormone Increase and acidosis, etc., cause calcium and phosphorus metabolism disorders and metabolic bone disease.

Some external factors such as drugs and food can also cause various metabolic diseases. Antiepileptic drugs such as barbituric sodium and phenytoin can promote the activity of liver microsomal enzymes and accelerate the breakdown of vitamin D and 25-hydroxyvitamin D in the liver. Therefore, after long-term application of these drugs, blood 25-hydroxyvitamin D Decreased, followed by decreased calcium and phosphorus in the blood, increased alkaline phosphatase and osteomalacia. People who regularly eat foods containing too much fat and cholesterol are prone to hyperlipoproteinemia, arteriosclerosis and gallstones. (Except ketogenic diet)

The common features are as follows.

Metabolic disorders such as sugar, protein, fat, water, and minerals are often mutually affected and linked, and sometimes cause a vicious circle. Such as insulin deficiency increases blood sugar, plasma lipoprotein, cholesterol, triglycerides, protein breakdown, negative nitrogen balance, sugar-permeable diuretic caused dehydration and negative balance of potassium, sodium, calcium, phosphorus, magnesium, etc. in severe cases Ketoacidosis occurs, which in turn increases blood sugar and blood lipids, and so on, until the patient dies.

Various metabolic diseases can affect all tissues and organs throughout the body. The basic feature of hypercholesterolemia is the deposition of cholesterol in blood vessels and other places, causing arteriosclerosis. The affected tissues are systemic, such as cerebral arteriosclerosis, coronary heart disease, Renal arteriosclerosis causes changes in renal dysfunction, peripheral vascular sclerosis, and xanthomas of the skin and tendons.

The severity of clinical manifestations of metabolic diseases depends on the degree of metabolic disorders and the degree of damage to the structure and function of important organs and tissues. Generally speaking, the early stage of the disease is only a change in the biochemical process, the pathological and functional changes of the organs and tissues are not obvious, and there may be no obvious symptoms clinically. For example, in the early stage of diabetes, the blood glucose is slightly elevated, and the patient is asymptomatic for many years. When the blood glucose is significantly increased, there are symptoms such as polydipsia, polyuria, polyphagia, and weight loss. Long-term hyperglycemia, hyperlipoproteinemia, and abnormal platelet function can cause microvascular and macrovascular disease. At this time, there are complications such as fundus retinal blood vessels, kidneys, heart, brain and peripheral nerves, blood vessels and other complications. Some metabolic diseases have serious metabolic disorders. For example, infants of Fanconi's syndrome died of dehydration, electrolyte imbalance, and metabolic acidosis due to proximal and distal renal tubular dysfunction.

Many metabolic diseases can affect intelligence, growth and mental state. For example, cysteineuria is accompanied by severe brain damage and mental retardation, growth and development retardation, and children often die early.

The diagnosis of metabolic disease should be comprehensively analyzed based on symptoms, signs and laboratory tests. Investigation of family history is an important part of the diagnosis of hereditary metabolic diseases. For example, hypophosphatemic anti-vitamin D rickets are X-associated dominant genetic diseases. The abnormal genes are in the X chromosome, and the children of female patients account for half of the health and the sick, while the children of male patients are healthy and women are sick. However, because male patients do not have normal X chromosomes and abnormal X chromosome genes (male sex chromosomes are XY), male patients are more severe than females. Those without early clinical manifestations need to rely on laboratory tests to confirm the diagnosis. Asymptomatic diabetes is diagnosed by checking blood glucose and even glucose tolerance tests. The diagnosis of many genetic diseases, especially the diagnosis of etiologies, depends on modern scientific methods. J. Goldstein and M. Brown discover low-density lipoprotein receptors (LDL receptors), clarifying LDL metabolic pathways and familial homozygous or heterozygous hypercholesterolemia due to LDL receptor deficiency and number, respectively Reduced. At the genetic level, some lipid metabolism disorders have been found to be associated with apolipoprotein restriction fragment length polymorphisms (RFLP). This RFLP technology can be directly used in the clinical diagnosis of hereditary lipid metabolism diseases.

Most metabolic diseases lack a cure. Treatment methods include: alternative therapies (such as injecting insulin to people with insulin-dependent diabetes to supplement the lack of insulin secreted by beta cells of the pancreatic islets); reducing the accumulation of substrates due to enzyme defects (such as the use of non-lactate-free foods to treat hemic acidemia) ); For hypokalemia and hyperchloric acidosis caused by renal tubular acidosis, sodium bicarbonate can be used to correct acidosis and supplement potassium salts; D-penicillin can be combined with cystine to form a more soluble disulfide mixture, It can be used to treat cystineuria.