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Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body.
For three types of leukodystrophies (X-linked adrenoleukodystrophy (X-ALD), metachromatic leukodystrophy (MLD) and Krabbe Disease (globoid cell leukodystrophy - GLD), gene therapy using autologous hematopoietic stem cells to transfer the healthy copy of the disease-causing gene with lentiviral vectors has been shown to succeed and has been used ...
Symptoms that begin later in childhood, adolescence, or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise.
Symptoms and signs [ edit ] Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties, lethargy , hypoglycemia , hypotonia , liver problems, and abnormalities in the retina .
The symptoms of the disorders can vary from every patient. Most symptoms are noticeable at birth. There is often lack in growth and muscle tone as the child develops. Also the disorders involve neurological problems. This would include frequent seizures, delays in intellectual development, and the absence in basic reflexes. [citation needed]
The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]
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Adrenoleukodystrophy, and the milder form, adrenomyeloneuropathy, cause adrenal insufficiency combined with neurological symptoms. These diseases are estimated to be the cause of adrenal insufficiency in about 35% of diagnosed males with idiopathic Addison's disease and should be considered in the differential diagnosis of any male with adrenal ...