Disorder of aromatic amino-acid metabolism, unspecified Save
ICD-10 code: E70.9
Chapter: Endocrine, nutritional and metabolic diseases
Disorder of Aromatic Amino-Acid Metabolism, Unspecified: Causes, Symptoms, and Treatment
Disorder of Aromatic Amino-Acid Metabolism, Unspecified refers to a group of inherited metabolic disorders that affect the metabolism of aromatic amino acids in the body. These disorders are caused by a defect in the enzymes that break down these amino acids, leading to a buildup of toxic metabolites in the body. While the exact cause of this disorder is not known, it is believed to be genetic in nature.
The symptoms of Disorder of Aromatic Amino-Acid Metabolism, Unspecified can vary from person to person and can include developmental delays, intellectual disabilities, seizures, and behavioral problems. Other symptoms may include skin rashes, a musty odor, and a yellowing of the skin and eyes.
- Diagnosis - Diagnosis of Disorder of Aromatic Amino-Acid Metabolism, Unspecified typically involves a blood test to measure the levels of amino acids in the blood. Genetic testing may also be used to identify the specific genetic mutation causing the disorder.
- Treatment - There is no cure for Disorder of Aromatic Amino-Acid Metabolism, Unspecified, but treatment can help manage the symptoms. This may include a special diet low in aromatic amino acids, supplements to help break down these amino acids, and medications to treat seizures and behavioral problems.
- Prevention - Since Disorder of Aromatic Amino-Acid Metabolism, Unspecified is genetic, there is no way to prevent it. However, genetic counseling can help families who have a history of the disorder understand their risk of passing it on to their children.
It is important to seek medical attention if you or your child are experiencing symptoms of Disorder of Aromatic Amino-Acid Metabolism, Unspecified. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for those affected by this disorder.
If you suspect that you or someone you know may have Disorder of Aromatic Amino-Acid Metabolism, Unspecified, talk to your doctor about your concerns. They can help you understand the condition and provide you with the appropriate care and treatment.