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What is ALD?

Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects the nervous system and adrenal glands. It is caused by a deficiency in a protein called ALD protein, which is responsible for breaking down a type of fatty acid called very long chain fatty acids (VLCFAs). When the ALD protein is not working properly, VLCFAs build up in the body and cause damage to the myelin sheath, the protective coating that surrounds nerve cells. This damage leads to the degeneration of the nervous system, specifically the brain.

There are different types of ALD, and the symptoms and severity can vary depending on the type. The most severe form of ALD, X-linked Adrenoleukodystrophy (X-ALD), affects only males and typically presents in childhood. Symptoms of X-ALD include behavioural changes, loss of coordination and cognitive abilities, and eventually loss of the ability to walk or talk. There are also milder forms of the disorder that affect both males and females, and may not manifest until adulthood. The Addison's disease (Adrenal insufficiency) is a rare disorder that results from damage of the adrenal gland, which can be related to different reasons, but in ALD case, it's a result of the build-up of VLCFAs in the Adrenal gland.

Currently, there is no cure for ALD, but early diagnosis and treatment can slow the progression of the disease and improve the quality of life for those affected. Treatment typically includes a diet that is low in VLCFAs. Additionally, bone marrow transplantation and gene therapy are currently being studied as potential treatments for ALD.

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