Prevention and Genetic Testing

Prevention of Adrenoleukodystrophy

There is no way to prevent ALD. Parents who have a history of ALD in their family can undergo genetic counseling when deciding to have a child. By doing this parents are able to get genetically tested to determine if they carry the gene that could be passed on to their offspring. Female carriers can be diagnosed 85% of the time using a very-long chain fatty acid test and a DNA probe study done by laboratories. 

If a child is born with ALD early recognition and treatment may prevent the development of clinical symptoms. Lorenzo’s oil has been shown to be a significant treatment option in young boys. There are also new technologies being developed to allow detection of ALD through newborn screening. A prenatal diagnosis for adrenoleukodystrophy is currently available which evaluated the cells from the chorionic villus or amniocentesis.

Genetic testing for Adrenoleukodystrophy

About 93% of index cases have inherited the ABCD1 mutation from one parent; at most, 7% of individuals with X-ALD have a de novo (Latin expression meaning "from the beginning,") mutation. Affected males transmit the ABCD1 mutation to all of their daughters and none of their sons. Carrier females have a 50% chance of transmitting the ABCD1 mutation in each pregnancy. Males who inherit the mutation will be affected; females who inherit the mutation are carriers and will usually not be seriously affected. Carrier testing of at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if there is a family history of ALD.

CCALD - childhood form ALD
AMN - neurological ALD

References

Hugo W Moser, M.D. Ann B Moser, B.A. Steven J Steinberg, Ph.D. and Stephan Kemp Ph.D. Database X-ald; Adapted from; http://www.x-ald.nl/clinical-diagnosis/genetics-and-counseling/

Moser A., Steinberg J. & Raymond, G. 1999. X-linked Adrenoleukodystrophy. Gene Reviews; Adapted from http://www.ncbi.nlm.nih.gov/books/NBK1315/

Kaneshiro N. & Zieve D. 2009. Adrenoleukodystrophy – Prevention. University of Maryland Medical Center; Adapted from http://www.umm.edu/ency/article/001182prv.htm


Alisha M.