Disorder of branched-chain amino-acid metabolism, unspecified Save
ICD-10 code: E71.2
Chapter: Endocrine, nutritional and metabolic diseases
Understanding Disorder of Branched-Chain Amino-Acid Metabolism, Unspecified
Branched-chain amino acids (BCAAs) are essential amino acids that play a crucial role in protein synthesis. These amino acids include leucine, isoleucine, and valine. They are primarily found in high-protein foods such as meat, dairy, and legumes. The human body is equipped with enzymes that help break down these amino acids so that they can be utilized for energy or used to build new proteins.
However, when there is a disorder in branched-chain amino acid metabolism, the body cannot process these amino acids effectively. This can lead to a buildup of toxic byproducts, which can cause a wide range of health problems.
Symptoms of Disorder of Branched-Chain Amino-Acid Metabolism, Unspecified
The symptoms of this disorder can vary depending on the severity of the condition. Some common symptoms include:
- Delayed development
- Difficulty feeding
- Seizures
- Abnormal muscle tone
- Mental retardation
These symptoms can appear in infants, children, and adults. In some cases, the symptoms may not appear until later in life.
Causes of Disorder of Branched-Chain Amino-Acid Metabolism, Unspecified
The causes of this disorder are not fully understood. In some cases, it may be caused by a genetic mutation that affects the enzymes responsible for breaking down BCAAs. In other cases, it may be caused by a deficiency of certain vitamins or minerals that are necessary for BCAA metabolism.
Diagnosis and Treatment
A diagnosis of this disorder is typically made through blood tests that measure the levels of BCAAs and their byproducts. Treatment may involve a special diet that is low in BCAAs, along with supplements to help with the metabolism of these amino acids. In severe cases, medication may be needed to help manage symptoms and prevent complications.
Conclusion
Disorder of branched-chain amino-acid metabolism, unspecified is a serious condition that can cause a wide range of health problems. It is important to seek medical attention if you or your child is experiencing any of the symptoms associated with this disorder. With proper diagnosis and treatment, it is possible to manage this condition and prevent complications.