What are the different inherited metabolic diseases?

The most common inherited metabolic diseases include thyroid disease, cystinuria and specific types of DNA. Scientists and doctors also believe that albinism and phenylketonuria diseases are also inherited. Due to high progress in genetic screening, many inherited metabolic diseases can be diagnosed during childhood, which can significantly increase successful treatment. It is often a painful condition that causes joint swelling, especially in the legs and legs. Those suffering from gout may be completely free of symptoms for several months, then suddenly have attacks that may take weeks. DNA is usually treated with oral anti -inflammatory or steroid injections. Set, gene must be present in both parents. Those with cystinuria have high amino acid levels called cysteine, which is built in the kidneys and causes stones to form. The main approach to the treatment of patients suffering from cystinuria is the prevention of stone. In most cases, patients may remain without kidney stones if they drink a large amount of water daily. PokUD develops kidney stones, an attempt is made to dissolve their drugs, but in some cases hospitalization is necessary to remove stones.

thyroid disease describes hypothyroidism and hyperthyroidism. With hypothyroidism, the thyroid gland does not produce enough thyroid hormone, which may result in lethargy, weight gain and constipation. Hyperthyroidism occurs when the thyroid gland is an hormone that often leads to weight loss, seizures of diarrhea, hair loss and nervousness. Treatment of thyroid disease usually involves medicines that either limit or increase the production of thyroid hormone.

phenylketonuria, often referred to as PKu, is one of the more serious inherited metabolic diseases. In some cases, this may lead to mental retardation and serious behavior problems. Patients with phenylketonuria are not able to process amino acid called phenylalanine, which is essential for healthy růst and brain development. Infants are routinely tested for this disease shortly after birth. If the test is positive, they are administered to treatment regimens to maintain phenylalanine at low levels.

those suffering from albinism have almost no color pigmentation in the skin, hair or eyes. Unlike many inherited metabolic diseases, in most cases children born with albinism have parents who do not suffer from the disease, because sometimes many generations can skip. People with albinism are usually sensitive to light and may suffer from severe visio problems. Treatment primarily consists of protecting the skin and eyes from ultra -aloly light.