*This month in partnership with ALD Connect*
Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls.
This month, we are featuring adrenoleukodystrophy (ALD). ALD is a X-linked genetic disorder characterized by the deterioration of myelin, a fatty substance that serves to insulate the nerves of the brain and spinal cord. In individuals with ALD, this loss of myelin, also known as demyelination, occurs due to an issue with the gene ABCD1. Under normal conditions, this gene produces a protein essential for breaking down a class of fatty acids known as very long-chain fatty acids, or VLCFAs. When ABCD1 malfunctions, however, VLCFAs build up in the body, creating inflammation that causes myelin to deteriorate.
Females with ALD have been known to present symptoms similar to males with AMN, with the exception being that these symptoms tend to manifest later in life. Rarely do females develop the cerebral version of the disease or adrenal insufficiency. The following symptoms have been documented in females with ALD:
Today we are chatting with Dr. Florian Eichler. Dr. Eicher is an Associate Professor of Neurology at Harvard Medical School. His research focus is on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy. As director of the leukodystrophy clinic at the Massachusetts General Hospital he sees patients with a variety of white matter disorders. He currently holds several NIH awards funding studies to analyze metabolic changes seen in the brain by MR measures and to determine the neurotoxicity of newly discovered atypical sphingolipids.
Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out rememberthegirls.org.
