Metabolic disorders are a group of health conditions characterized by abnormalities in the body's metabolism, the chemical processes that occur within living cells to maintain life. These disorders, often inherited, affect the body's ability to convert food into energy or handle waste materials.
Metabolism refers to the various biochemical reactions that happen inside cells to produce energy, repair tissues, and eliminate waste. When the metabolism is impaired due to genetic mutations or other factors, it can result in a wide range of disorders.
There are several types of metabolic disorders, such as diabetes, where the body cannot effectively process sugar (glucose); phenylketonuria (PKU), in which the body is unable to break down the amino acid phenylalanine; or lysosomal storage disorders, where harmful substances accumulate within cells due to enzyme deficiencies.
The symptoms and severity of metabolic disorders can vary widely depending on the specific condition. They often present with signs such as fatigue, weakness, weight loss or gain, developmental delays, organ dysfunction, or neurological problems.
Diagnosis of metabolic disorders usually involves a combination of medical history evaluation, physical examination, and laboratory tests to measure specific substances in the blood, urine, or tissues. Treatment options range from dietary changes and supplements to medication or enzyme replacement therapy depending on the disorder.
In summary, metabolic disorders encompass a group of conditions caused by abnormalities in the body's metabolic processes, resulting in impaired energy production, waste elimination, and overall body function.
