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Adrenoleukodystrophy or ALD is caused by mutations in ABCD1, a gene located in the X chromosome. Seizures, adrenal insufficiency and hyperactivity are some of the common symptoms of ALD. Additionally, it can cause problems with speaking, listening and understanding verbal instructions.
HOW IS ADRENOLEUKODYSTROPHY DIAGNOSED?
ALD can be diagnosed with tests done for genetics diseases such as • Checking adrenal glands • Checking level of VLCFA • Find the genetic mutation responsible AND • MRI scans • Vision screening (for children)
HOW IS ADRENOLEUKODYSTROPHY TREATED?
There are various kinds of therapy that can be used for treating this condition. These include gene therapy which can be transplanted in case a natural match is not found; transplant which can be done in the early stages. Also dietary therapy is known to be effective in such cases.
DID YOU KNOW?
Since ALD is inherited, so few tests like amniocentesis during pregnancy can be done to check for newborns.