Inherited metabolic disorders can affect your body's ability to convert food into energy and remove waste and unhealthy substances. Some conditions impair cell development and brain function. Genetic metabolic disorders are also known as genetic metabolic disorders and inborn errors of metabolism.
Metabolism refers to the chemical processes in the body. Your body needs these processes to stay alive. Genetic metabolic disease examples occur when abnormal chemical reactions interfere with these processes.
Some genetic metabolic disorders may require routine medical examinations before or after birth. Or symptoms may develop in the future.
How common are inherited metabolic disorders?
Doctors have identified hundreds of genetic metabolic diseases. Most of these conditions are very rare. Symptoms and treatments for these disorders can vary widely.
What are the inherited metabolic disorders?
Hundreds of inherited metabolic diseases include:
Lysophagocytosis: Prevents the breakdown of metabolic wastes, leading to the accumulation of toxins in the body. These include Hurler syndrome, Gaucher disease, and Tay-Sachs disease.
Maple diabetes: Accumulation of amino acids can cause nerve damage, and urine by-products have a syrupy smell.
Glycogen sugar is caused by poor sugar storage.
Mitochondrial disorders: Disorders of mitochondrial cells can affect many organ systems, including the brain, muscles, liver and kidneys.
Peroxisomal disorders: disorders that resemble lysosomal accumulation and toxin accumulation.
Metabolism disorders: Trace metals can reach toxic levels. These include Wilson disease (toxic copper levels) and hemochromatosis (excessive intestinal iron).
What are the risk factors for inherited metabolic disorders?
People at higher risk for inherited metabolic disorders include those with a family history.
What are the causes of genetic metabolic disorders?
Genetic defects passed down from parents can lead to genetic metabolic disorders. Hormone or enzyme deficiencies can cause genetic changes. These defects can cause abnormal chemical reactions that prevent metabolism from working properly.
What are the symptoms of an inherited metabolic disorder?
Symptoms of inherited metabolic disorders vary by condition. Some symptoms are mild, while others are weak. Some symptoms are:
Stunted growth.
Losing weight.
Growth disorder.
Epileptic seizures.
Poor appetite and energy levels.
Unusual odors (eg, sweet) in urine, sweat, breath.
Abdominal pain.
