What are inherited metabolic disorders?
Inherited metabolic disorders are a group of genetic health conditions that are characterized by abnormalities concerning certain chemical reactions in the body. The most common types of inherited metabolic disorders include phenylketonuria, cystinuria and albinism. This category also includes thyroid disease. Symptoms of these disorders may vary considerably, although many potential symptoms may be detected during childhood. Treatment depends on the type of disorders present, individual symptoms and their severity.
Phenylketonuria, often referred to as PKU, is one of the most common inherited metabolic disorders. In this state, the body cannot properly break the type of protein known as phenylalanine, causing it to accumulate in the body. This abnormal accumulation of protein can lead to brain and central nervous system problems. Fortunately, a simple blood test is extremely effective in diagnosis shortly after birth to diagnose PKu to be the treatment to be gonne before any negativeativated side effects. This condition can be treated effectively with a specialized diet that has a low protein content.
cystinuria is also one of the possible inherited metabolic disorders. This disorder causes the development of stones in the kidneys, bladder and ureters due to increased amino acid levels known as cystin. Symptoms often include back pain or abdominal areas of the body and sometimes in the urine a noticeable amount of blood will be noticeable. Treatment may include the use of over -the -counter or prescription drugs, increased fluid intake or surgical intervention.
Another of the more common inherited metabolic disorders is known as Albinism. Albinism is characterized by a partial or complete absence of skin, hair and eye pigment. Skin and sensitivity problems are common among those who have this type of genetic capacity. Frequent medical examination and vision screening are important for those who mAji albinism. Sunbag and protective clothing are also required to protect the skin from the sun's rays.
Some forms of thyroid disease may be between possible inherited metabolic disorders. The thyroid gland is responsible for the production and regulation of certain hormones in the body. Hormone substitution therapy is often useful in the treatment of this condition. The exact used medicines depend on whether the thyroid gland produces too much or too little hormone. Any questions or concerns about various inherited metabolic disorders should be discussed with a doctor or other doctor.